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2. The first Czech patient with aminoacylase I deficiency

Author

Procházková, Dagmar, primary, Borská, Romana, additional, Chrastina, Petr, additional, Fajkusová, Lenka, additional, Konečná, Petra, additional, Slabá, Kateřina, additional, Šenkyřík, Jan, additional, Pešková, Karolína, additional, Jabandžiev, Petr, additional, and Honzík, Tomáš, additional

Published
2023
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3. Acylcarnitines' Level in the Dried Blood Spot Samples of Healthy Newborns in Serbia-The Pilot Study.

Author

Beletic, Andjelo, Tijanic, Aleksandra, Nikolic, Tatjana, Chrastina, Petr, Stefanovic, Aleksandar, and Stankovic, Sanja

Subjects
BLOOD, NEWBORN infants, FATTY acid analysis
Abstract

Analysis of the acylcarnitines' (ACs) is the mainstay for screening for fatty acid oxidation disorders (FAOD). Data about the ACs profile in the dried blood spot samples of healthy newborns in Serbia are not at disposal. Therefore, we determined the ACs levels and established the cut-offs. Between August 2018 and August 2019 a total of 1771 samples had been analysed. Cut-offs, established using a non-parametric approach, were verified in comparison with the worldwide target ranges and the data for several Caucasian populations. The majority of ACs had comparable distribution in Serbian and the worldwide population. In case of discrepancy, the individual alterations had a frequency of less than 10%. Seventeen out of 25 established cutoffs were in the worldwide target range. Reliability of the cut-offs positioning out of the target ranges is not jeopardized, since alterations are negligible or similar findings were reported for other Caucasian populations. The established and verified set of cut-offs can be used in the future screening for carnitine uptake/transport defect, medium-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency, trifunctional protein deficiency, carnitine palmitoyltransferase deficiency Ia and II, as well as carnitine:acylcarnitine translocase deficiency. [ABSTRACT FROM AUTHOR]

Published
2023
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4. The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

Author

Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey-Saban, Christine, Ruijter, George J.G., Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey-Saban, Christine, and Ruijter, George J.G.

Abstract

External quality assurance (EQA) is crucial to monitor and improve the quality of biochemical genetic testing. ERNDIM (www.erndim.org), established in 1994, aims at reliable and standardized procedures for diagnosis, treatment and monitoring of inherited metabolic disease (IMD) by providing EQA schemes and educational activities. Currently, ERNDIM provides 16 different EQA schemes including quantitative schemes for various metabolite groups, and interpretive schemes such as diagnostic proficiency testing (DPT). DPT schemes focus on the ability of laboratories to correctly identify and interpret abnormalities in authentic urine samples across a wide range of IMDs. In the DPT schemes, six samples each year are distributed together with clinical information. Laboratories choose and perform the tests needed to reach a diagnosis. Data were collected on 345 samples, distributed to up to 105 laboratories worldwide. Diagnostic proficiency (the % of total points possible for all participating laboratories within a scheme for analysis and interpretation) ranged widely: amino acid disorders (n = 20), range 33%–100%, mean 84%; organic acid disorders (n = 35), range 14%–100%, mean 84%; lysosomal storage disorders (n = 13), range 20%–97%, mean 73%; purine/pyrimidine disorders (n = 9), range 37%–100%, mean 70%; miscellaneous disorders (n = 8), range 17%–100%, mean 65%; no IMD, range 65%–95%, mean 85%. When a sample with the same disorder was distributed in a subsequent survey, performance improved in 75 cases with no improvement seen in 32, suggesting overall improvement of performance. ERNDIM diagnostic proficiency testing is a valuable activity which can help to assess laboratory performance, identify methodological/technical challenges, be informative during quality audits and contribute to a better clinical appreciation of diagnostic uncertainty.

Published
2022

7. Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study

Author

Rücklová, Kristina, primary, Hrubá, Eva, additional, Pavlíková, Markéta, additional, Hanák, Petr, additional, Farolfi, Martina, additional, Chrastina, Petr, additional, Vlášková, Hana, additional, Kousal, Bohdan, additional, Smolka, Vratislav, additional, Foltenová, Hana, additional, Adam, Tomáš, additional, Friedecký, David, additional, Ješina, Pavel, additional, Zeman, Jiří, additional, Kožich, Viktor, additional, and Honzík, Tomáš, additional

Published
2021
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10. Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations

Author

Kuchař, Ladislav, Ledvinová, Jana, Hřebíček, Martin, Myšková, Helena, Dvořáková, Lenka, Berná, Linda, Chrastina, Petr, Asfaw, Befekadu, Elleder, Milan, Petermöller, Margret, Mayrhofer, Heidi, Staudt, Martin, Krägeloh-Mann, Ingeborg, Paton, Barbara C., and Harzer, Klaus

Published
2009
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11. Epidemiology of rare diseases detected by newborn screening in the Czech Republic

Author

David, Jan, primary, Chrastina, Petr, additional, Pešková, Karolina, additional, Kožich, Viktor, additional, Friedecký, David, additional, Adam, Tomáš, additional, Hlídková, Eva, additional, Vinohradská, Hana, additional, Novotná, Dana, additional, Hedelová, Monika, additional, Al Taji, Eva, additional, Holubová, Andrea, additional, Skalická, Veronika, additional, Macek, Milan, additional, Gaillyová, Renata, additional, and Votava, Felix, additional

Published
2019
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12. Newborn screening for homocystinurias: Recent recommendations versus current practice.

Author

Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, and Cassanello, Michela

Abstract

Purpose To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty‐two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta‐synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. Results: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second‐tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second‐tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. Conclusions: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second‐tier markers. [ABSTRACT FROM AUTHOR]

Published
2019
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13. Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats

Author

Cahova, Monika, primary, Chrastina, Petr, additional, Hansikova, Hana, additional, Drahota, Zdenek, additional, Trnovska, Jaroslava, additional, Skop, Vojtech, additional, Spacilova, Jana, additional, Malinska, Hana, additional, Oliyarnyk, Olena, additional, Papackova, Zuzana, additional, Palenickova, Eliska, additional, and Kazdova, Ludmila, additional

Published
2015
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15. Enhanced interpretation of newborn screening results without analyte cutoff values

Author

UCL - (SLuc) Service de biochimie médicale, Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, Hoffman, Gary L, UCL - (SLuc) Service de biochimie médicale, Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, and Hoffman, Gary L

Abstract

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors. Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%. © 2012 American College of Medical Genetics and Genomics.

Published
2012

16. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M., UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M.

Abstract

PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS:: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION:: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders. © 2011 Lippincott Williams & Wilkins.

Published
2011

17. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, Zakowicz Wendy M., McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, and Zakowicz Wendy M.

Published
2011

18. Enhanced interpretation of newborn screening results without analyte cutoff values

Author

Marquardt, Gregg, primary, Currier, Robert, additional, McHugh, David M.S., additional, Gavrilov, Dimitar, additional, Magera, Mark J., additional, Matern, Dietrich, additional, Oglesbee, Devin, additional, Raymond, Kimiyo, additional, Rinaldo, Piero, additional, Smith, Emily H., additional, Tortorelli, Silvia, additional, Turgeon, Coleman T., additional, Lorey, Fred, additional, Wilcken, Bridget, additional, Wiley, Veronica, additional, Greed, Lawrence C., additional, Lewis, Barry, additional, Boemer, François, additional, Schoos, Roland, additional, Marie, Sandrine, additional, Vincent, Marie-Françoise, additional, Sica, Yuri Cleverthon, additional, Domingos, Mouseline Torquado, additional, Al-Thihli, Khalid, additional, Sinclair, Graham, additional, Al-Dirbashi, Osama Y., additional, Chakraborty, Pranesh, additional, Dymerski, Mark, additional, Porter, Cory, additional, Manning, Adrienne, additional, Seashore, Margretta R., additional, Quesada, Jonessy, additional, Reuben, Alejandra, additional, Chrastina, Petr, additional, Hornik, Petr, additional, Mandour, Iman Atef, additional, Sharaf, Sahar Abdel Atty, additional, Bodamer, Olaf, additional, Dy, Bonifacio, additional, Torres, Jasmin, additional, Zori, Roberto, additional, Cheillan, David, additional, Vianey-Saban, Christine, additional, Ludvigson, David, additional, Stembridge, Adrya, additional, Bonham, Jim, additional, Downing, Melanie, additional, Dotsikas, Yannis, additional, Loukas, Yannis L., additional, Papakonstantinou, Vagelis, additional, Zacharioudakis, Georgios S.A., additional, Baráth, Ákos, additional, Karg, Eszter, additional, Franzson, Leifur, additional, Jonsson, Jon J., additional, Breen, Nancy N., additional, Lesko, Barbara G., additional, Berberich, Stanton L., additional, Turner, Kimberley, additional, Ruoppolo, Margherita, additional, Scolamiero, Emanuela, additional, Antonozzi, Italo, additional, Carducci, Claudia, additional, Caruso, Ubaldo, additional, Cassanello, Michela, additional, Marca, Giancarlo la, additional, Pasquini, Elisabetta, additional, Di Gangi, Iole Maria, additional, Giordano, Giuseppe, additional, Camilot, Marta, additional, Teofoli, Francesca, additional, Manos, Shawn M., additional, Peterson, Colleen K., additional, Mayfield Gibson, Stephanie K., additional, Sevier, Darrin W., additional, Lee, Soo-Youn, additional, Park, Hyung-Doo, additional, Khneisser, Issam, additional, Browning, Phaidra, additional, Gulamali-Majid, Fizza, additional, Watson, Michael S., additional, Eaton, Roger B., additional, Sahai, Inderneel, additional, Ruiz, Consuelo, additional, Torres, Rosario, additional, Seeterlin, Mary A., additional, Stanley, Eleanor L., additional, Hietala, Amy, additional, McCann, Mark, additional, Campbell, Carlene, additional, Hopkins, Patrick V., additional, de Sain–Van der Velden, Monique G., additional, Elvers, Bert, additional, Morrissey, Mark A., additional, Sunny, Sherlykutty, additional, Knoll, Detlef, additional, Webster, Dianne, additional, Frazier, Dianne M., additional, McClure, Julie D., additional, Sesser, David E., additional, Willis, Sharon A., additional, Rocha, Hugo, additional, Vilarinho, Laura, additional, John, Catharine, additional, Lim, James, additional, Caldwell, S. Graham, additional, Tomashitis, Kathy, additional, Castiñeiras Ramos, Daisy E., additional, de Juan, Jose Angel Cocho, additional, Fernández, Inmaculada Rueda, additional, Macías, Raquel Yahyaoui, additional, Egea-Mellado, José María, additional, González-Gallego, Inmaculada, additional, Pecellin, Carmen Delgado, additional, Bermejo, Maria Sierra García-Valdecasas, additional, Chien, Yin-Hsiu, additional, Hwu, Wuh-Liang, additional, Childs, Thomas, additional, McKeever, Christine D., additional, Tanyalcin, Tijen, additional, Abdulrahman, Mahera, additional, Queijo, Cecilia, additional, Lemes, Aída, additional, Davis, Tim, additional, Hoffman, William, additional, Baker, Mei, additional, and Hoffman, Gary L., additional

Published
2012
Full Text
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19. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh, David M.S., primary, Cameron, Cynthia A., additional, Abdenur, Jose E., additional, Abdulrahman, Mahera, additional, Adair, Ona, additional, Al Nuaimi, Shahira Ahmed, additional, Åhlman, Henrik, additional, Allen, Jennifer J., additional, Antonozzi, Italo, additional, Archer, Shaina, additional, Au, Sylvia, additional, Auray-Blais, Christiane, additional, Baker, Mei, additional, Bamforth, Fiona, additional, Beckmann, Kinga, additional, Pino, Gessi Bentz, additional, Berberich, Stanton L., additional, Binard, Robert, additional, Boemer, François, additional, Bonham, Jim, additional, Breen, Nancy N., additional, Bryant, Sandra C., additional, Caggana, Michele, additional, Caldwell, S. Graham, additional, Camilot, Marta, additional, Campbell, Carlene, additional, Carducci, Claudia, additional, Cariappa, Rohit, additional, Carlisle, Clover, additional, Caruso, Ubaldo, additional, Cassanello, Michela, additional, Castilla, Ane Miren, additional, Ramos, Daisy E Castiñeiras, additional, Chakraborty, Pranesh, additional, Chandrasekar, Ram, additional, Ramos, Alfredo Chardon, additional, Cheillan, David, additional, Chien, Yin-Hsiu, additional, Childs, Thomas A., additional, Chrastina, Petr, additional, Sica, Yuri Cleverthon, additional, de Juan, Jose Angel Cocho, additional, Colandre, Maria Elena, additional, Espinoza, Veronica Cornejo, additional, Corso, Gaetano, additional, Currier, Robert, additional, Cyr, Denis, additional, Czuczy, Noemi, additional, D'Apolito, Oceania, additional, Davis, Tim, additional, de Sain-Van der Velden, Monique G., additional, De Pecellin, Carmen lgado, additional, Di Gangi, Iole Maria, additional, Di Stefano, Cristina Maria, additional, Dotsikas, Yannis, additional, Downing, Melanie, additional, Downs, Stephen M., additional, Dy, Bonifacio, additional, Dymerski, Mark, additional, Rueda, Inmaculada, additional, Elvers, Bert, additional, Eaton, Roger, additional, Eckerd, Barbara M., additional, El Mougy, Fatma, additional, Eroh, Sarah, additional, Espada, Mercedes, additional, Evans, Catherine, additional, Fawbush, Sandy, additional, Fijolek, Kristel F., additional, Fisher, Lawrence, additional, Franzson, Leifur, additional, Frazier, Dianne M., additional, Garcia, Luciana R.C., additional, Bermejo, Maria Sierra García-Valdecasas, additional, Gavrilov, Dimitar, additional, Gerace, Rosemarie, additional, Giordano, Giuseppe, additional, Irazabal, Yolanda González, additional, Greed, Lawrence C., additional, Grier, Robert, additional, Grycki, Elyse, additional, Gu, Xuefan, additional, Gulamali-Majid, Fizza, additional, Hagar, Arthur F., additional, Han, Lianshu, additional, Hannon, W. Harry, additional, Haslip, Christa, additional, Hassan, Fayza Abdelhamid, additional, He, Miao, additional, Hietala, Amy, additional, Himstedt, Leslie, additional, Hoffman, Gary L., additional, Hoffman, William, additional, Hoggatt, Philis, additional, Hopkins, Patrick V., additional, Hougaard, David M., additional, Hughes, Kerie, additional, Hunt, Patricia R., additional, Hwu, Wuh-Liang, additional, Hynes, June, additional, Ibarra-González, Isabel, additional, Ingham, Cindy A., additional, Ivanova, Maria, additional, Jacox, Ward B., additional, John, Catharine, additional, Johnson, John P., additional, Jónsson, Jón j, additional, Karg, Eszter, additional, Kasper, David, additional, Klopper, Brenda, additional, Katakouzinos, Dimitris, additional, Khneisser, Issam, additional, Knoll, Detlef, additional, Kobayashi, Hirinori, additional, Koneski, Ronald, additional, Kožich, Viktor, additional, Kouapei, Rasoul, additional, Kohlmueller, Dirk, additional, Kremensky, Ivo, additional, la Marca, Giancarlo, additional, Lavochkin, Marcia, additional, Lee, Soo-Youn, additional, Lehotay, Denis C., additional, Lemes, Aida, additional, Lepage, Joyce, additional, Lesko, Barbara, additional, Lewis, Barry, additional, Lim, Carol, additional, Linard, Sharon, additional, Lindner, Martin, additional, Lloyd-Puryear, Michele A., additional, Lorey, Fred, additional, Loukas, Yannis L., additional, Luedtke, Julie, additional, Maffitt, Neil, additional, Magee, J. Fergall, additional, Manning, Adrienne, additional, Manos, Shawn, additional, Marie, Sandrine, additional, Hadachi, Sônia Marchezi, additional, Marquardt, Gregg, additional, Martin, Stephen J., additional, Matern, Dietrich, additional, Gibson, Stephanie K. Mayfield, additional, Mayne, Philip, additional, McCallister, Tonya D., additional, McCann, Mark, additional, McClure, Julie, additional, McGill, James J., additional, McKeever, Christine D., additional, McNeilly, Barbara, additional, Morrissey, Mark A., additional, Moutsatsou, Paraskevi, additional, Mulcahy, Eleanor A., additional, Nikoloudis, Dimitris, additional, Norgaard-Pedersen, Bent, additional, Oglesbee, Devin, additional, Oltarzewski, Mariusz, additional, Ombrone, Daniela, additional, Ojodu, Jelili, additional, Papakonstantinou, Vagelis, additional, Reoyo, Sherly Pardo, additional, Park, Hyung-Doo, additional, Pasquali, Marzia, additional, Pasquini, Elisabetta, additional, Patel, Pallavi, additional, Pass, Kenneth A., additional, Peterson, Colleen, additional, Pettersen, Rolf D., additional, Pitt, James J., additional, Poh, Sherry, additional, Pollak, Arnold, additional, Porter, Cory, additional, Poston, Philip A., additional, Price, Ricky W., additional, Queijo, Cecilia, additional, Quesada, Jonessy, additional, Randell, Edward, additional, Ranieri, Enzo, additional, Raymond, Kimiyo, additional, Reddic, John E., additional, Reuben, Alejandra, additional, Ricciardi, Charla, additional, Rinaldo, Piero, additional, Rivera, Jeff D., additional, Roberts, Alicia, additional, Rocha, Hugo, additional, Roche, Geraldine, additional, Greenberg, Cheryl Rochman, additional, Mellado, José María Egea, additional, Juan-Fita, María Jesús, additional, Ruiz, Consuelo, additional, Ruoppolo, Margherita, additional, Rutledge, S. Lane, additional, Ryu, Euijung, additional, Saban, Christine, additional, Sahai, Inderneel, additional, García-Blanco, Maria Isabel Salazar, additional, Santiago-Borrero, Pedro, additional, Schenone, Andrea, additional, Schoos, Roland, additional, Schweitzer, Barb, additional, Scott, Patricia, additional, Seashore, Margretta R., additional, Seeterlin, Mary A., additional, Sesser, David E., additional, Sevier, Darrin W., additional, Shone, Scott M., additional, Sinclair, Graham, additional, Skrinska, Victor A., additional, Stanley, Eleanor L., additional, Strovel, Erin T., additional, Jones, April L Studinski, additional, Sunny, Sherlykutty, additional, Takats, Zoltan, additional, Tanyalcin, Tijen, additional, Teofoli, Francesca, additional, Thompson, J. Robert, additional, Tomashitis, Kathy, additional, Domingos, Mouseline Torquado, additional, Torres, Jasmin, additional, Torres, Rosario, additional, Tortorelli, Silvia, additional, Turi, Sandor, additional, Turner, Kimberley, additional, Tzanakos, Nick, additional, Valiente, Alf G., additional, Vallance, Hillary, additional, Vela-Amieva, Marcela, additional, Vilarinho, Laura, additional, von Döbeln, Ulrika, additional, Vincent, Marie-Francoise, additional, Vorster, B. Chris, additional, Watson, Michael S., additional, Webster, Dianne, additional, Weiss, Sheila, additional, Wilcken, Bridget, additional, Wiley, Veronica, additional, Williams, Sharon K., additional, Willis, Sharon A., additional, Woontner, Michael, additional, Wright, Katherine, additional, Yahyaoui, Raquel, additional, Yamaguchi, Seiji, additional, Yssel, Melissa, additional, and Zakowicz, Wendy M., additional

Published
2011
Full Text
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21. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Author

Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M

Abstract

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field., PURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

22. Monitoring compensation of patients with cystinuria by spectrophotometric method

Author

Leitner, Martin, Hyánek, Josef, and Chrastina, Petr

Abstract

The presented bachelor's thesis deals with the issue of cystinuria, hereditary metabolic disorder of transport of dibasic amino acids. The objective of the thesis was to select a spectrophotometric method of determining cystine in urine, to find the most suitable conditions for determining cystine in a clinical laboratory and to apply the method on samples of urine of patients with cystinuria. For determining cystine in urine, the method using coloured red and violet product of cystine reaction was selected after reduction to cystine with ninhydrin agent in acid environment. Absorption spectra of standard of cystine and urine in a patient with cystinuria were measured with the maximum at 560 nm. Interference of ornithine and other amino acids was excluded. Kinetics of reduction of cystine to cysteine was measured. The most suitable time of reduction is 5 minutes, in longer time cysteine is oxidized to cystine. Kinetics of creation of a coloured product was measured. The maximum absorption in heating the reaction mix with ninhydrin to 100řC was reached after 10 minutes, later only degradation processes and absorbance reduction takes place. Stability of a coloured product of reaction in light was tested. The product is stable for ten minutes, then absorbance drops by 8% after 45 minutes. Linearity of...

Published
2010

24. X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Author

Zemanova M, Chrastina P, Dvorakova L, Reboun M, Vlaskova H, Jahnova H, El-Lababidi N, Cepova J, Honzik T, and Zeman J

Abstract

Objectives: X-linked adrenoleukodystrophy (X-ALD) causes cerebral adrenoleukodystrophy (cALD), myelopathy and/or adrenal insufficiency in males, and myelopathy/peripheral neuropathy in females. These distinct phenotypes are scarcely linked to a specific mutations. The objective herein was to find a link between the phenotype with the genotype mutation, serum very long-chain fatty acids (VLCFA), and the diet with Lorenzo´s and GTO oils in hemizygous males and heterozygous females., Methods: A retrospective study design with follow-up of 45 hemizygous males and 50 heterozygous females carrying mutations in ABCD1 from 35 unrelated families with X-ALD. Mutation analysis was performed by Sanger sequencing of PCR and/or RT-PCR and the severity of missense mutations was evaluated using GERP++ score and CADD score., Results: Twenty-five described and eight novel ABCD1 mutations were identified. Fifteen males and 23 females had severe mutations while 30 males and 27 females had less detrimental ones. cALD developed in 25 males (56%) including nine boys with severe mutations, 10 boys with less detrimental mutations and 6 adults with adrenomyelopathy. Myelopathy and/or adrenal insufficiency developed in 14 males (31%), six were asymptomatic. Adrenal insufficiency developed in two of five boys treated with hematopoietic stem cell transplantation (HSCT). Myelopathy/peripheral neuropathy developed in 26% of females. No correlation was found between the disease severity and the genotype, GERP++ and CADD scores, presence/absence of aberrant ALDP protein or X-inactivation. VLCFA were higher in males than heterozygous females and decreased during Lorenzo´s and GTO oils diet without a clear clinical impact on the disease., Conclusion: The prognosis was unfavourable in most males and significant part of females. Therapy with early HSCT is effective. Thus, the need for early diagnosis with the neonatal screening is crucial.

Published
2021

25. [Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

Author

Vondrácková A, Tesarová M, Magner M, Docekalová D, Chrastina P, Procházkova D, Zeman J, and Honzík T

Subjects
Child, Child, Preschool, Female, Humans, Hydrolases genetics, Infant, Male, Mutation, Tyrosinemias genetics, Tyrosinemias metabolism, Tyrosinemias therapy, Tyrosinemias diagnosis
Abstract

Background: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase. HT1 manifests with severe liver and kidney impairment and associates with an increased risk of liver cancer development. The aim of our study is to present a detailed clinical picture and results of biochemical and molecular genetic analyses in 11 Czech patients with HT1 diagnosed in our clinic within 1982-2006., Methods and Results: In 9 patients the disease manifested between 1.5-7 months of age with refusal to eat, failure to thrive and vomiting. In 4 children HT1 progressed to acute liver failure. One clinically healthy boy was diagnosed because of affected sister. In one boy with liver cirrhosis the diagnosis was delayed until the age of 5.5 years. In all children the biochemical investigation showed elevated liver enzymes, alpha1-fetoprotein and hypophosphatemic rickets. Metabolic investigation revealed increased plasma tyrosine level, urinary excretion of succinylacetone and in 8 measured patients also increased urinary delta-aminolevulinic acid concentration. Three patients born before 1988 died due to liver cancer development (two of them) or liver failure. The average age of our 8 living patients is 10.7 +/- 8.3 years. Mutation analysis of FAH gene confirmed the HT1 in these patients and three novel mutations were found in FAH gene: c.579C>A, c.680G>T and c.1210G>A. Clinical status in six patients is favourable on strict low protein diet combined with Orfadin therapy. However, in two children despite of the maximal available therapy lasting 2 and 10 years resp., the disease progressed towards liver cancer development and necessity of liver transplantation., Conclusions: Early diagnostics of HT1 as a part of extended newborn screening is the only possibility to further improve the prognosis of the patients. Moreover, available molecular-genetic analysis of the FAH gene enables prenatal diagnostics in affected families.

Published
2010

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