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3. 5,10-methenyltetrahydrofolate synthetase deficiency:An extreme rare defect of folate metabolism in two Dutch siblings

Author

Liepina, Lelde, Smith, Desiree E.C., Huidekoper, Hidde, Zeidler, Shimriet, Wamelink, Mirjam, de Wit, Marie Claire, Wilke, Martina, Ruijter, George, Bierau, Jörgen, Blom, Henk J., Liepina, Lelde, Smith, Desiree E.C., Huidekoper, Hidde, Zeidler, Shimriet, Wamelink, Mirjam, de Wit, Marie Claire, Wilke, Martina, Ruijter, George, Bierau, Jörgen, and Blom, Henk J.

Abstract

Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10-methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous MTHFS variant NM_006441.3(MTHFS):c.434G > A, p.Arg145Gin, which has been described before. At baseline, both patients showed moderate hyperhomocysteinemia, decreased 5-methyltetrahydrofolate (5MTHF), and increased 5-formyltetrahydrofolate (5-FTHF) in whole blood. In CSF, 5MTHF levels were in the low-normal range and 5-FTHF was strongly increased. In our novel enzyme assay, MTHFS activity was deficient in cultured fibroblasts in both sisters. Oral treatment was initiated with escalating dose of 5-methyltetrahydrofolate (5MTHF) up to 12 mg and hydroxycobalamin 5 mg daily. Plasma homocysteine normalized and 5MTHF became elevated in the blood of both patients. The elevated 5FTHF levels increased further on treatment in blood and CSF. This regimen resulted in some clinical improvement of patient 1. In patient 2, the clinical benefits of 5MTHF supplementation were less obvious. It seems plausible that the alleviation of the deficient 5MTHF levels and normalization of homocysteine in blood are of some clinical benefit. On the other hand, the very high levels of 5FTHF may well be detrimental and may prompt us to decrease the dose of 5MTHF. In addition, we hypothesize that the crippled MTHFS enzyme may destabilize the purinosome, which is presumably not ameliorated by 5MTHF.

Published
2024

8. Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data

Author

Bongaerts, Michiel (author), Kulkarni, Purva (author), Zammit, Alan (author), Bonte, Ramon (author), Kluijtmans, Leo A. J. (author), Blom, Henk J. (author), Engelke, Udo F. H. (author), Tax, D.M.J. (author), Ruijter, George J.G. (author), Reinders, M.J.T. (author), Bongaerts, Michiel (author), Kulkarni, Purva (author), Zammit, Alan (author), Bonte, Ramon (author), Kluijtmans, Leo A. J. (author), Blom, Henk J. (author), Engelke, Udo F. H. (author), Tax, D.M.J. (author), Ruijter, George J.G. (author), and Reinders, M.J.T. (author)

Abstract

Untargeted metabolomics (UM) is increasingly being deployed as a strategy for screening patients that are suspected of having an inborn error of metabolism (IEM). In this study, we examined the potential of existing outlier detection methods to detect IEM patient profiles. We benchmarked 30 different outlier detection methods when applied to three untargeted metabolomics datasets. Our results show great differences in IEM detection performances across the various methods. The methods DeepSVDD and R-graph performed most consistently across the three metabolomics datasets. For datasets with a more balanced number of samples-to-features ratio, we found that AE reconstruction error, Mahalanobis and PCA reconstruction error also performed well. Furthermore, we demonstrated the importance of a PCA transform prior to applying an outlier detection method since we observed that this increases the performance of several outlier detection methods. For only one of the three metabolomics datasets, we observed clinically satisfying performances for some outlier detection methods, where we were able to detect 90% of the IEM patient samples while detecting no false positives. These results suggest that outlier detection methods have the potential to aid the clinical investigator in routine screening for IEM using untargeted metabolomics data, but also show that further improvements are needed to ensure clinically satisfying performances., Pattern Recognition and Bioinformatics

Published
2023
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9. Colaboradores

Author

Abrams, Charles S., Adler, Ronald S., Agarwal, Anupam, Akin, Cem, Aksamit, Allen J., Jr., Al-Awqati, Qais, Allen, Upton D., Allos, Ban Mishu, Angus, Derek C., Appelbaum, Frederick R., Armitage, James O., Armstrong, April W., Armstrong, Deborah K., Arnaout, M. Amin, Arnold, Robert M., Aronson, Louise, Atkinson, John P., Attia, Evelyn, Auerbach, Andrew D., Ayanian, John Z., Baddour, Larry M., Baden, Lindsey R., Bailey, Thomas C., Bain, Barbara J., Bajorin, Dean F., Baloh, Robert W., Bangham, Charles R.M., Barasch, Jonathan, Barrett, Bruce, Bartholomew, John R., Bartleson, J.D., Barton, Mary B., Basner, Robert C., Bass, Adam J., Bass, Anne R., Bauman, Julie E., Bausch, Daniel G., Bayer, Arnold S., Bazarian, Jeffrey J., Bearman, Gonzalo M., Becker, Richard C., Beckham, J. David, Beckman, Joshua A., Beigel, John H., Bel, Elisabeth H., Belda, Walter, Jr., Benarroch, Eduardo E., Berger, Joseph R., Berliner, Nancy, Bernat, James L., Bessesen, Daniel H., Bibbins-Domingo, Kirsten, Biesecker, Leslie G., Biundo, Joseph J., Blankson, Joel N., Bloch, Karen C., Blom, Henk J., Boden, William E., Boivin, Guy, Bolognia, Jean, Bonomo, Robert A., Booth, Sarah L., Bosaeus, Ingvar G., Brenner, David J., Bridges, S. Louis, Jr., Brochard, Laurent, Brodsky, Robert A., Brook, Itzhak, Brown, Jennifer R., Brunetti, Enrico, Bryant, Amy E., Budge, Philip J., Buffet, Pierre A., Bushinsky, David A., Bykerk, Vivian P., Calabresi, Peter A., Calello, Diane P., Calfee, David P., Callahan, S. Todd, Camilleri, Michael, Canoso, Juan J., Cappellini, Maria Domenica, Carabello, Blase A., Carucci, Laura R., Castells, Mariana, Catherino, William H., Cederholm, Tommy E., Chalasani, Naga P., Chambers, Henry F., Chang, Larry W., Chang, Lin, Chao, Nelson J., Chatterjee, Mitali, Chaturvedi, Seemant, Chen, Lin H., Chen, Sharon C-A, Chon, Susan Y., Christiani, David C., Chu, Edward, Cieslak, Theodore J., Cioffi, George A., Clancy, Carolyn M., Clauss, Heather, Clauw, Daniel J., Clemmons, David R., Coffman, Thomas M., Cohen, David, Cohen, Jeffrey, Cohen, Myron S., Cohen, Steven P., Connors, Joseph M., Cook, Deborah J., Cook, Lucy B.M., Cooney, Kathleen A., Craigen, William J., Crandall, Jill P., Croft, Simon L., Crow, Mary K., Crump, John A., Cudkowicz, Merit E., Cunningham-Rundles, Charlotte, Dahir, Kathryn M., Damon, Inger K., Daras, Michael, Dart, Richard C., Davidson, Nancy E., Deane, Kevin D., DeAngelis, Lisa M., DeCamp, Malcolm M., DeLoughery, Thomas G., del Rio, Carlos, De Luca, Gabriele C., Denning, David W., Deuster, Patricia A., DeZern, Amy E., Dhatariya, Ketan K., Diasio, Robert B., Diemert, David J., Digre, Kathleen B., Dilsizian, Vasken, Dionne, Jodie A., Di Paola, Jorge, Dispenzieri, Angela, Dogra, Sunil, Doroshow, James H., Douglas, John M., Jr., Drazen, Jeffrey M., Drekonja, Dimitri, Dubberke, Erik R., DuBeau, Catherine E., Dumler, J. Stephen, Duvic, Madeleine, Ebi, Kristie, Edwards, Kathryn M., Edwards, N. Lawrence, Eikelboom, John W., Einhorn, Lawrence H., Elliott, Perry M., Emanuel, Ezekiel J., Falagas, Matthew E., Falk, Gary W., Fang, James C., Farley, Monica M., Feder, Gene, Feller-Kopman, David J., File, Thomas McDonald, Jr., Fishman, Glenn I., Flack, John M., Fleckenstein, James M., Fleisher, Lee A., Flint, Paul W., Fogel, Evan L., Fontana, Robert J., Forsmark, Chris E., Fournier, Pierre-Edouard, Fowler, Vance G., Jr., Franco, Manuel A., Fraser, Victoria J., Freeman, Roy, Freund, Karen M., Froberg, Blake A., Gallagher, Patrick G., Gandhi, Monica, Gandhi, Rajesh T., Ganz, Leonard, Garan, Hasan, Garcia-Tsao, Guadalupe, Geisler, William M., Gelfand, Joel M., George, Tony P., Gepstein, Lior, Gertz, Morie A., Ghanem, Khalil G., Gharavi, Ali G., Ghossein, Cybele, Gill, Christopher J., Ginsburg, Geoffrey S., Glesby, Marshall J., Gnann, John W., Jr., Goldman, David L., Goldman, Lee, Goldstein, Larry B., Gordon, Anthony C., Gotlib, Jason, Gotuzzo, Eduardo, Grasemann, Hartmut, Green-McKenzie, Judith, Greenberg, Harry B., Greenberg, Steven A., Greer, David M., Greysen, S. Ryan, Griffin, Marie R., Griggs, Robert C., Grossman, Daniel, Guay-Woodford, Lisa M., Gulick, Roy M., Haake, David A., Hagman, Melissa M., Hagspiel, Klaus D., Harris, Raymond C., Havers, Fiona P., Heath, Elisabeth I., Hecht, Frederick M., Hensrud, Donald D., Hess, Jeremy, Hewlett, Erik L., Hift, Richard J., Hill, David R., Hill, Nicholas S., Hillyer, Christopher D., Hirsch, Hans H., Hoeper, Marius M., Hoit, Brian D., Holers, V. Michael, Holland, Steven M., Hollenberg, Anthony N., Hollenberg, Steven M., Howard, Jo, Hunter, David J., Hussain, Khalid, Iannuzzi, Michael C., Inman, Robert D., Inouye, Sharon K., Ison, Michael G., Jen, Joanna C., Jensen, Dennis M., Jensen, Michael D., Jensen, Robert T., Johnston, S. Claiborne, Jones, Robin L., Jordan, Richard C., Kahi, Charles J., Kaiser, Laurent, Kaminski, Henry J., Kamya, Moses R., Kao, Louise W., Kaplan, Steven A., Kastner, Daniel L., Katzka, David A., Katzman, Debra K., Kaushansky, Kenneth, Kaye, Keith S., Keating, Armand, Kelley, Robin K., Kennedy, Richard B., Khuri, Fadlo R., Kim, Rose, Kirchhoff, Louis V., Kirking, Hannah, Kirtane, Ajay J., Kishnani, Priya S., Klausner, Jeffrey D., Klion, Amy D., Klompas, Michael, Knopman, David S., Ko, Christine J., Kodali, Susheel, Kontoyiannis, Dimitrios P., Koppel, Barbara S., Korenblat, Kevin M., Korf, Bruce R., Kortepeter, Mark G., Koshy, Anita A., Kottilil, Shyamasundaran, Kovacs, Joseph A., Kovacs, Thomas O., Kowdley, Kris V., Kraft, Monica, Kramer, Christopher M., Krasnewich, Donna M., Kraus, William E., Krause, Peter J., Kroger, Andrew T., Kroshinsky, Daniela, Kuemmerle, John F., Kuipers, Ernst J., Kutner, Jean S., Laheru, Daniel, Lampert, Rachel, Landefeld, C. Seth, Landovitz, Raphael J., Landry, Donald W., Lange, Richard A., Lee, Hochang B., Lee, Nelson, Levey, Andrew S., Levine, Stephanie M., Lichtenstein, Gary R., Liebmann, Jeffrey M., Liebschutz, Jane M., Lim, Henry W., Lima, Aldo A.M., Limaye, Ajit P., Limdi, Nita A., Link, Mark S., Liu, Catherine, Lloyd-Jones, Donald M., Lopez, Fred A., Louie, Arnold, Lyness, Jeffrey M., MacKenzie, C. Ronald, MacLennan, Calman A., MacMillan, Harriet L., Madoff, Robert D., Maher, Jacquelyn, Maier, Lisa A., Maldarelli, Frank, Malhotra, Atul, Manary, Mark J., Marcos, Luis A., Marelli, Ariane J., Marks, Andrew R., Marschall, Jonas, Martin, Paul, Martinez, Fernando J., Mason, Joel B., Masur, Henry, Mathers, Amy J., Matthay, Michael A., McCool, F. Dennis, McInnes, Iain B., McLaughlin, Vallerie, McMichael, Amy, McMurray, John J.V., McQuaid, Kenneth R., Mead, Paul S., Means, Robert T., Jr., Melia, Michael T., Mellinghoff, Ingo K., Melton, Genevieve B., Merrick, Samuel T., Miceli, Marisa H., Michel, Marc, Mokdad, Ali H., Moy, Ernest, Mukherjee, Debabrata, Murr, Andrew H., Myerburg, Robert J., Nadeau, Kari C., Nath, Avindra, Neal-Perry, Genevieve, Neilson, Eric G., Nelson, Christina A., Nelson, David B., Nelson, Lewis S., Nestler, Eric J., Neuzil, Kathleen M., Nieman, Lynnette K., Niven, Alexander S., O’Connor, Christopher M., O’Connor, Francis G., O’Connor, Patrick G., O’Donnell, Anne E., O’Donnell, James S., Oh, Jae K., Okun, Michael S., O’Leary, Sean T., Olgin, Jeffrey E., Olivier, Kenneth N., Olivotto, Iacopo, Olsen, Nancy J., Orenstein, Walter A., Ortel, Thomas L., O’Shea, John J., Osmon, Douglas R., Ostrem, Jill L., Ostrosky-Zeichner, Luis, Otto, Catherine M., Ottolini, Martin G., Ovsyannikova, Inna G., Pappas, Peter G., Park, Ben Ho, Patel, Robin, Patterson, Thomas F., Pawlotsky, Jean-Michel, Payne, Thomas H., Pearce, Elizabeth N., Pearson, Richard D., Perl, Trish M., Petersen, Brett W., Petri, William A., Jr., Pfeffer, Marc A., Philips, Jennifer A., Pisetsky, David S., Pletcher, Steven D., Plumb, Ian D., Poland, Gregory A., Powell, Frank, Pyeritz, Reed E., Quinn, Thomas C., Racaniello, Vincent, Radhakrishnan, Jai, Radich, Jerald, Rafailidis, Petros I., Raghu, Ganesh, Ragni, Margaret V., Rahman, Proton, Rajkumar, S. Vincent, Ralston, Stuart H., Raoult, Didier, Reboli, Annette C., Reddy, K. Rajender, Redelmeier, Donald A., Redlich, Carrie A., Reilly, John, Reller, Megan E., Reno, Hilary E.L., Resnick, Neil M., Rice, Louis B., Roach, E. Steve, Robinson, Jennifer G., Rogatsky, Inez, Rogers, Joseph G., Rolain, Jean-Marc, Rollins, Barrett J., Romero, José R., Rosen, Jennifer B., Rosenthal, Philip J., Russell, James A., Rustgi, Anil K., Safer, Joshua D., Saini, Sarbjit S., Salmon, Jane E., Salvana, Edsel Maurice T., Santoro, Nanette, Santucci, Peter A., Sarnak, Mark J., Savage, Kerry J., Savard, Patrice, Sawka, Michael N., Scanlon, Paul D., Schafer, Andrew I., Schiff, Manuel, Schilsky, Michael L., Schneider, Thomas Rudolf, Schooley, Robert T., Schriger, David L., Schuchter, Lynn M., Schwartz, Lawrence B., Seas, Carlos, Seifert, Steven A., Seifter, Julian Lawrence, Selcen, Duygu, Selim, Magdy, Semrad, Carol E., Sepulveda, Jorge, Shaw, Pamela J., Shaz, Beth H., Sheridan, Robert L., Sherman, Stuart, Shojania, Kaveh G., Shopsin, Bo, Shy, Michael E., Sidransky, Ellen, Sifri, Costi D., Siliciano, Robert F., Simel, David L., Skorecki, Karl, Slawski, Barbara A., Slutsky, Arthur S., Smetana, Gerald W., Smith, A. Gordon, Smith, Stephen R., Southwick, Frederick S., Spiegel, Allen M., Spiera, Robert, Spinola, Stanley M., Spong, Catherine Y., Stabler, Sally P., Stark, Paul, Clair, E. William St., Steiner, Theodore S., Stephens, David S., Stevens, David A., Stevens, Dennis L., Stokes, M. Barry, Stoller, James K., Stone, John H., Stone, Richard M., Su, Edwin P., Swerdloff, Ronald S., Swygard, Heidi, Sykes, Megan, Talbot, H. Keipp, Tamimi, Rulla M., Tanofsky-Kraff, Marian, Tarlo, Susan M., Taylor, Stephanie N., Teirstein, Paul S., Telford, Sam R., III, Thakker, Rajesh V., Therrien, Judith, Thompson, George R., III, Tormoehlen, Laura, Tosti, Antonella, Trehan, Indi, Umpierrez, Guillermo E., Valeri, Anthony Michael, Varga, John, Vaughn, Bradley V., Venook, Alan P., Verbalis, Joseph G., Vose, Julie M., Wachter, Robert M., Walsh, B. Timothy, Walsh, Edward E., Walsh, Thomas J., Walston, Jeremy D., Walter, Roland B., Wang, Christina, Wang, Kenneth K., Ware, Lorraine B., Warren, Cirle A., Watkins, Paul B., Weber, Thomas J., Weimer, Louis H., Weinberg, Geoffrey A., Weinstein, Robert S., Weiss, Roger D., Weiss, Roy E., Weitz, Jeffrey I., Welt, Frederick G.P., Wenzel, Richard P., Werth, Victoria P., West, Sterling G., White, A. Clinton, Jr., White, Christopher J., White, Julian, White, Perrin C., Whitley, Richard J., Whyte, Michael P., Wiebe, Samuel, Wiener-Kronish, Jeanine P., Wilber, David J., Wilcox, Mark H., Winikoff, Beverly, Winter, Jane N., Wittink, Marsha N., Wolff, Tracy A., Wolin, Edward M., Wormser, Gary P., Yancy, Clyde W., Young, Neal S., Young, Vincent B., Young, William F., Jr., Yu, Alan S.L., Zimetbaum, Peter, and Zucker, Jane R.

Published
2025
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13. Postauthorization safety study of betaine anhydrous

Author

Mütze, Ulrike, primary, Gleich, Florian, additional, Garbade, Sven F., additional, Plisson, Céline, additional, Aldámiz‐Echevarría, Luis, additional, Arrieta, Francisco, additional, Ballhausen, Diana, additional, Zielonka, Matthias, additional, Petković Ramadža, Danijela, additional, Baumgartner, Matthias R., additional, Cano, Aline, additional, García Jiménez, María Concepción, additional, Dionisi‐Vici, Carlo, additional, Ješina, Pavel, additional, Blom, Henk J., additional, Couce, Maria Luz, additional, Meavilla Olivas, Silvia, additional, Mention, Karine, additional, Mochel, Fanny, additional, Morris, Andrew A. M., additional, Mundy, Helen, additional, Redonnet‐Vernhet, Isabelle, additional, Santra, Saikat, additional, Schiff, Manuel, additional, Servais, Aude, additional, Vitoria, Isidro, additional, Huemer, Martina, additional, Kožich, Viktor, additional, and Kölker, Stefan, additional

Published
2022
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14. Contributors

Author

Abrams, Charles S., Adler, Ronald S., Agarwal, Anupam, Akin, Cem, Aksamit, Allen J., Jr., Al-Awqati, Qais, Allen, Upton D., Allos, Ban Mishu, Angus, Derek C., Appelbaum, Frederick R., Armitage, James O., Armstrong, April W., Armstrong, Deborah K., Arnaout, M. Amin, Arnold, Robert M., Aronson, Louise, Atkinson, John P., Attia, Evelyn, Auerbach, Andrew D., Ayanian, John Z., Baddour, Larry M., Baden, Lindsey R., Bailey, Thomas C., Bain, Barbara J., Bajorin, Dean F., Baloh, Robert W., Bangham, Charles R.M., Barasch, Jonathan, Barrett, Bruce, Bartholomew, John R., Bartleson, J.D., Barton, Mary B., Basner, Robert C., Bass, Adam J., Bass, Anne R., Bauman, Julie E., Bausch, Daniel G., Bayer, Arnold S., Bazarian, Jeffrey J., Bearman, Gonzalo M., Becker, Richard C., Beckham, J. David, Beckman, Joshua A., Beigel, John H., Bel, Elisabeth H., Belda, Walter, Jr., Benarroch, Eduardo E., Berger, Joseph R., Berliner, Nancy, Bernat, James L., Bessesen, Daniel H., Bibbins-Domingo, Kirsten, Biesecker, Leslie G., Biundo, Joseph J., Blankson, Joel N., Bloch, Karen C., Blom, Henk J., Boden, William E., Boivin, Guy, Bolognia, Jean, Bonomo, Robert A., Booth, Sarah L., Bosaeus, Ingvar G., Brenner, David J., Bridges, S. Louis, Jr., Brochard, Laurent, Brodsky, Robert A., Brook, Itzhak, Brown, Jennifer R., Brunetti, Enrico, Bryant, Amy E., Budge, Philip J., Buffet, Pierre A., Bushinsky, David A., Bykerk, Vivian P., Calabresi, Peter A., Calello, Diane P., Calfee, David P., Callahan, S. Todd, Camilleri, Michael, Canoso, Juan J., Cappellini, Maria Domenica, Carabello, Blase A., Carucci, Laura R., Castells, Mariana, Catherino, William H., Cederholm, Tommy E., Chalasani, Naga P., Chambers, Henry F., Chang, Larry W., Chang, Lin, Chao, Nelson J., Chatterjee, Mitali, Chaturvedi, Seemant, Chen, Lin H., C-A Chen, Sharon, Chon, Susan Y., Christiani, David C., Chu, Edward, Cieslak, Theodore J., Cioffi, George A., Clancy, Carolyn M., Clauss, Heather, Clauw, Daniel J., Clemmons, David R., Coffman, Thomas M., Cohen, David, Cohen, Jeffrey, Cohen, Myron S., Cohen, Steven P., Connors, Joseph M., Cook, Deborah J., Cook, Lucy B.M., Cooney, Kathleen A., Craigen, William J., Crandall, Jill P., Croft, Simon L., Crow, Mary K., Crump, John A., Cudkowicz, Merit E., Cunningham-Rundles, Charlotte, Dahir, Kathryn M., Damon, Inger K., Daras, Michael, Dart, Richard C., Davidson, Nancy E., Deane, Kevin D., DeAngelis, Lisa M., DeCamp, Malcolm M., DeLoughery, Thomas G., Rio, Carlos del, De Luca, Gabriele C., Denning, David W., Deuster, Patricia A., DeZern, Amy E., Dhatariya, Ketan K., Diasio, Robert B., Diemert, David J., Digre, Kathleen B., Dilsizian, Vasken, Dionne, Jodie A., Di Paola, Jorge, Dispenzieri, Angela, Dogra, Sunil, Doroshow, James H., Douglas, John M., Jr., Drazen, Jeffrey M., Drekonja, Dimitri, Dubberke, Erik R., DuBeau, Catherine E., Dumler, J. Stephen, Duvic, Madeleine, Ebi, Kristie, Edwards, Kathryn M., Edwards, N. Lawrence, Eikelboom, John W., Einhorn, Lawrence H., Elliott, Perry M., Emanuel, Ezekiel J., Falagas, Matthew E., Falk, Gary W., Fang, James C., Farley, Monica M., Feder, Gene, Feller-Kopman, David J., McDonald File, Thomas, Jr., Fishman, Glenn I., Flack, John M., Fleckenstein, James M., Fleisher, Lee A., Flint, Paul W., Fogel, Evan L., Fontana, Robert J., Forsmark, Chris E., Fournier, Pierre-Edouard, Fowler, Vance G., Jr., Franco, Manuel A., Fraser, Victoria J., Freeman, Roy, Freund, Karen M., Froberg, Blake A., Gallagher, Patrick G., Gandhi, Monica, Gandhi, Rajesh T., Ganz, Leonard, Garan, Hasan, Garcia-Tsao, Guadalupe, Geisler, William M., Gelfand, Joel M., George, Tony P., Gepstein, Lior, Gertz, Morie A., Ghanem, Khalil G., Gharavi, Ali G., Ghossein, Cybele, Gill, Christopher J., Ginsburg, Geoffrey S., Glesby, Marshall J., Gnann, John W., Jr., Goldman, David L., Goldman, Lee, Goldstein, Larry B., Gordon, Anthony C., Gotlib, Jason, Gotuzzo, Eduardo, Grasemann, Hartmut, Green-McKenzie, Judith, Greenberg, Harry B., Greenberg, Steven A., Greer, David M., Greysen, S. Ryan, Griffin, Marie R., Griggs, Robert C., Grossman, Daniel, Guay-Woodford, Lisa M., Gulick, Roy M., Haake, David A., Hagman, Melissa M., Hagspiel, Klaus D., Harris, Raymond C., Havers, Fiona P., Heath, Elisabeth I., Hecht, Frederick M., Hensrud, Donald D., Hess, Jeremy, Hewlett, Erik L., Hift, Richard J., Hill, David R., Hill, Nicholas S., Hillyer, Christopher D., Hirsch, Hans H., Hoeper, Marius M., Hoit, Brian D., Holers, V. Michael, Holland, Steven M., Hollenberg, Anthony N., Hollenberg, Steven M., Howard, Jo, Hunter, David J., Hussain, Khalid, Iannuzzi, Michael C., Inman, Robert D., Inouye, Sharon K., Ison, Michael G., Jen, Joanna C., Jensen, Dennis M., Jensen, Michael D., Jensen, Robert T., Johnston, S. Claiborne, Jones, Robin L., Jordan, Richard C., Kahi, Charles J., Kaiser, Laurent, Kaminski, Henry J., Kamya, Moses R., Kao, Louise W., Kaplan, Steven A., Kastner, Daniel L., Katzka, David A., Katzman, Debra K., Kaushansky, Kenneth, Kaye, Keith S., Keating, Armand, Kelley, Robin K., Kennedy, Richard B., Khuri, Fadlo R., Kim, Rose, Kirchhoff, Louis V., Kirking, Hannah, Kirtane, Ajay J., Kishnani, Priya S., Klausner, Jeffrey D., Klion, Amy D., Klompas, Michael, Knopman, David S., Ko, Christine J., Kodali, Susheel, Kontoyiannis, Dimitrios P., Koppel, Barbara S., Korenblat, Kevin M., Korf, Bruce R., Kortepeter, Mark G., Koshy, Anita A., Kottilil, Shyamasundaran, Kovacs, Joseph A., Kovacs, Thomas O., Kowdley, Kris V., Kraft, Monica, Kramer, Christopher M., Krasnewich, Donna M., Kraus, William E., Krause, Peter J., Kroger, Andrew T., Kroshinsky, Daniela, Kuemmerle, John F., Kuipers, Ernst J., Kutner, Jean S., Laheru, Daniel, Lampert, Rachel, Landefeld, C. Seth, Landovitz, Raphael J., Landry, Donald W., Lange, Richard A., Lee, Hochang B., Lee, Nelson, Levey, Andrew S., Levine, Stephanie M., Lichtenstein, Gary R., Liebmann, Jeffrey M., Liebschutz, Jane M., Lim, Henry W., Lima, Aldo A.M., Limaye, Ajit P., Limdi, Nita A., Link, Mark S., Liu, Catherine, Lloyd-Jones, Donald M., Lopez, Fred A., Louie, Arnold, Lyness, Jeffrey M., MacKenzie, C. Ronald, MacLennan, Calman A., MacMillan, Harriet L., Madoff, Robert D., Maher, Jacquelyn, Maier, Lisa A., Maldarelli, Frank, Malhotra, Atul, Manary, Mark J., Marcos, Luis A., Marelli, Ariane J., Marks, Andrew R., Marschall, Jonas, Martin, Paul, Martinez, Fernando J., Mason, Joel B., Masur, Henry, Mathers, Amy J., Matthay, Michael A., McCool, F. Dennis, McInnes, Iain B., McLaughlin, Vallerie, McMichael, Amy, McMurray, John J.V., McQuaid, Kenneth R., Mead, Paul S., Means, Robert T., Jr., Melia, Michael T., Mellinghoff, Ingo K., Melton, Genevieve B., Merrick, Samuel T., Miceli, Marisa H., Michel, Marc, Mokdad, Ali H., Moy, Ernest, Mukherjee, Debabrata, Murr, Andrew H., Myerburg, Robert J., Nadeau, Kari C., Nath, Avindra, Neal-Perry, Genevieve, Neilson, Eric G., Nelson, Christina A., Nelson, David B., Nelson, Lewis S., Nestler, Eric J., Neuzil, Kathleen M., Nieman, Lynnette K., Niven, Alexander S., O’Connor, Christopher M., O’Connor, Francis G., O’Connor, Patrick G., O’Donnell, Anne E., O’Donnell, James S., Oh, Jae K., Okun, Michael S., O’Leary, Sean T., Olgin, Jeffrey E., Olivier, Kenneth N., Olivotto, Iacopo, Olsen, Nancy J., Orenstein, Walter A., Ortel, Thomas L., O’Shea, John J., Osmon, Douglas R., Ostrem, Jill L., Ostrosky-Zeichner, Luis, Otto, Catherine M., Ottolini, Martin G., Ovsyannikova, Inna G., Pappas, Peter G., Park, Ben Ho, Patel, Robin, Patterson, Thomas F., Pawlotsky, Jean-Michel, Payne, Thomas H., Pearce, Elizabeth N., Pearson, Richard D., Perl, Trish M., Petersen, Brett W., Petri, William A., Jr., Pfeffer, Marc A., Philips, Jennifer A., Pisetsky, David S., Pletcher, Steven D., Plumb, Ian D., Poland, Gregory A., Powell, Frank, Pyeritz, Reed E., Quinn, Thomas C., Racaniello, Vincent, Radhakrishnan, Jai, Radich, Jerald, Rafailidis, Petros I., Raghu, Ganesh, Ragni, Margaret V., Rahman, Proton, Rajkumar, S. Vincent, Ralston, Stuart H., Raoult, Didier, Reboli, Annette C., Reddy, K. Rajender, Redelmeier, Donald A., Redlich, Carrie A., Reilly, John, Reller, Megan E., Reno, Hilary E.L., Resnick, Neil M., Rice, Louis B., Roach, E. 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Published
2024
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15. Homocysteine and methylmalonic acid in Phenylketonuria patients.

Author

Hoss GRW, Sperb-Ludwig F, Tonon T, Poloni S, Behringer S, Blom HJ, Maillot F, and Schwartz IVD

Abstract

Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with high and normal/low phenylalanine (Phe) levels (n= 20); and in women before, during and after pregnancy (n= 3). THcy levels decreased after treating PKU with metabolic formula (p=0.014). Except for a pregnant woman before pregnancy, none of the patients had tHcy values above the normal range. In fact, tHcy was < 5 μmol/L in 34% of the samples. We observed a decrease in Phe, tHcy, and tyrosine levels during pregnancy. MMA levels did not differ significantly, with values remaining in the normal range. These data indicate that there was no B12 deficiency in patients who adhere to the diet. In conclusion, in PKU patients treated with metabolic formula, tHcy is frequently not elevated, remaining even in the lower normal range in some patients. Thus, clinical follow-up and adherence to dietary treatment are crucial to prevent B12 deficiency.

Published
2024
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