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101. Peroxisomal Disorders

Author

Bwee Tien, Poll-The, Wanders, Ronald J. A., Blau, N., Duran, M., Gibson, K. M., Dionisi-Vici, C., Amsterdam Gastroenterology Endocrinology Metabolism, and Laboratory Genetic Metabolic Diseases

Published
2014

102. Lysosomal storage disorders including neuronal ceroid lipofuscinoses

Author

Hollak, Carla, Kettwig, Matthias, Schlotawa, Lars, Steinfeld, Robert, Blau, N., Duran, M., Gibson, K. M., Dionisi-Vici, C., Amsterdam Gastroenterology Endocrinology Metabolism, and Endocrinology

Subjects
0303 health sciences, Pathology, medicine.medical_specialty, business.industry, Neurodegeneration, Hepatosplenomegaly, Grey matter, medicine.disease, Sphingolipid, Fabry disease, 3. Good health, Lipofuscin, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Sphingolipidoses, Miglustat, medicine, medicine.symptom, business, 030217 neurology & neurosurgery, 030304 developmental biology, medicine.drug
Abstract

Metabolic disorders that affect the lysosomal degradation of complex carbohydrates, lipids, and proteins are associated with a wide variety of clinical symptoms. At the severe end of the clinical spectrum, neurological symptoms are common and go along with significant brain pathology. The high abundance of sphingolipids in brain partially explains the major neurodegenerative effect of disturbed sphingolipid breakdown. In fact, sphingolipidoses frequently present with an involvement of the cerebral white matter. Other lysosomal disorders, in particular the neuronal ceroid lipofuscinoses (NCLs), primarily affect the cerebral grey matter. The NCLs share the lysosomal accumulation of autofluorescent storage material (lipofuscin) and often result from the disturbed degradation of hydrophobic proteins. The below table lists lysosomal storage diseases that are associated with neurodegeneration. At the milder end of the clinical spectrum, variable degrees of organ involvement exist, such as renal and cardiac disease in Fabry disease and hepatosplenomegaly with bone symtoms in gaucher disease. Neurological involvement is less prominent in these phenotypes.

Published
2014
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103. Biochemical phenotypes of questionable clinical significance

Author

Goodman, Stephen I., Duran, Marinus, Blau, N., Duran, M., Gibson, K. M., Dionisi-Vici, C., Amsterdam Gastroenterology Endocrinology Metabolism, and Laboratory Genetic Metabolic Diseases

Subjects
carbohydrates (lipids), Newborn screening, business.industry, parasitic diseases, food and beverages, Medicine, Clinical significance, macromolecular substances, Bioinformatics, business, Clinical disease, Phenotype, Biochemical phenotype
Abstract

The first subject described with a novel inborn error is almost invariably examined because of clinical disease, and it is only with the passage of time that the association between the biochemical and clinical phenotypes become better understood. This chapter will describe several biochemical phenotypes whose clinical relevance is now in question.

Published
2014
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109. Methoden zur Isolierung und Bestimmung der Hormone

Author

Zondek, B., Aschheim, S., Dickens, F., Reiss, M., Haurowitz, F., Wiesner, B. P., Marshall, P. Q., Scheibler, H., Krabbe, W., Funk, C., Zefirow, P., Katzman, P. A., Doisy, E. A., Elden, C. A., Loeser, A., Kamm, O., Aldrich, T. B., Grote, I. W., Rowe, L. W., Bugbee, E. P., Leland, J. P., Foster, G. L., Blau, N. F., Collip, J. B., Tweedy, W. R., Harington, Ch. R., Scott, D. A., Pfiffner, J. J., Wintersteiner, O., Vars, H. M., Reichstein, F., Butenandt, A., Jacobi, H., Fernholz, E., Schmidt, J., Hartmann, M., Wettstein, A., Tscherning, K., Dannenbaum, H., Hanisch, G., Kudszus, H., Gallagher, T. F., Koch, F. C., and Ruzicka, L.

Published
1937
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112. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

Author

Staudigl, M, Gersting, S W, Danecka, M K, Messing, D D, Woidy, M, Pinkas, D, Kemter, K F, Blau, N, Muntau, A C, University of Zurich, and Muntau, A C

Subjects
2716 Genetics (clinical), 1311 Genetics, 10036 Medical Clinic, 10076 Center for Integrative Human Physiology, 1312 Molecular Biology, 570 Life sciences, biology, 610 Medicine & health
Published
2011

115. Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

Author

Nalin, T, Perry, I D, Sitta, A, Vargas, C R, Saraiva-Pereira, M L, Giugliani, R, Blau, N, Schwartz, I V, and University of Zurich

Subjects
2712 Endocrinology, Diabetes and Metabolism, 1303 Biochemistry, 1311 Genetics, 10036 Medical Clinic, 10076 Center for Integrative Human Physiology, 1312 Molecular Biology, 570 Life sciences, biology, 610 Medicine & health, 1310 Endocrinology
Published
2011

116. The challenges of managing coexistent disorders with phenylketonuria: 30 cases

Author

MacDonald, A., primary, Ahring, K., additional, Almeida, M.F., additional, Belanger-Quintana, A., additional, Blau, N., additional, Burlina, A., additional, Cleary, M., additional, Coskum, T., additional, Dokoupil, K., additional, Evans, S., additional, Feillet, F., additional, Giżewska, M., additional, Gokmen Ozel, H., additional, Lotz-Havla, A.S., additional, Kamieńska, E., additional, Maillot, F., additional, Lammardo, A.M., additional, Muntau, A.C., additional, Puchwein-Schwepcke, A., additional, Robert, M., additional, Rocha, J.C., additional, Santra, S., additional, Skeath, R., additional, Strączek, K., additional, Trefz, F.K., additional, van Dam, E., additional, van Rijn, M., additional, van Spronsen, F., additional, and Vijay, S., additional

Published
2015
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121. Advances and challenges in phenylketonuria

Author

Harding, C O, Blau, N, and University of Zurich

Subjects
2716 Genetics (clinical), 1311 Genetics, 10036 Medical Clinic, 10076 Center for Integrative Human Physiology, 570 Life sciences, biology, 610 Medicine & health
Published
2010
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123. Vitamin B12 Disorders

Author

Blau, Nenad, Duran, M, Gibson, K M, Dionisi-Vici, C, Blau, N ( Nenad ), Duran, M ( M ), Gibson, K M ( K M ), Dionisi-Vici, C ( C ), Baumgartner, Matthias, Fowler, Brian, Blau, Nenad, Duran, M, Gibson, K M, Dionisi-Vici, C, Blau, N ( Nenad ), Duran, M ( M ), Gibson, K M ( K M ), Dionisi-Vici, C ( C ), Baumgartner, Matthias, and Fowler, Brian

Published
2014

124. Disorders in catabolism of biogenic amines

Author

Hoffmann, F G, Blau, Nenad, Hoffmann, F G ( F G ), Blau, N ( Nenad ), Hyland, K, Hoffmann, F G, Blau, Nenad, Hoffmann, F G ( F G ), Blau, N ( Nenad ), and Hyland, K

Published
2014

125. Disorders of Glutathione and y-Glutamyl Cycle

Author

Blau, Nenad, Duran, Marinus, Gibson, K M, Dionisi-Vici, Carlo, Blau, N ( Nenad ), Duran, M ( Marinus ), Gibson, K M ( K M ), Dionisi-Vici, C ( Carlo ), Blau, Nenad, Duran, Marinus, Gibson, K M, Dionisi-Vici, Carlo, Blau, N ( Nenad ), Duran, M ( Marinus ), Gibson, K M ( K M ), and Dionisi-Vici, C ( Carlo )

Published
2014

127. Hyperammonemias and related disorders

Author

Blau, Nenad, Duran, M, Gibson, K M, Dionisi-Vici, Carlo, Blau, N ( Nenad ), Duran, M ( M ), Gibson, K M ( K M ), Dionisi-Vici, C ( Carlo ), Haeberle, Johannes, Rubio, Vicente, Blau, Nenad, Duran, M, Gibson, K M, Dionisi-Vici, Carlo, Blau, N ( Nenad ), Duran, M ( M ), Gibson, K M ( K M ), Dionisi-Vici, C ( Carlo ), Haeberle, Johannes, and Rubio, Vicente

Published
2014

132. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

Author

Horvath, G A, Stockler-Ipsiroglu, S G, Salvarinova-Zivkovic, R, Lillquist, Y P, Connolly, M, Hyland, K, Blau, N, Rupar, T, Waters, P J, University of Zurich, and Stockler-Ipsiroglu, S G

Subjects
2712 Endocrinology, Diabetes and Metabolism, 1303 Biochemistry, 1311 Genetics, 10036 Medical Clinic, 1312 Molecular Biology, 610 Medicine & health, 1310 Endocrinology
Published
2008
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135. Mitochondrial energy metabolism

Author

Ruitenbeek, W., Wendel, U.A.H., Trijbels, J.M.F., Sengers, R.C.A., Blau, N., Duran, M., Blaskovics, M.E., Blau, N., Duran, M., and Blaskovics, M.E.

Subjects
Energy metabolism in human skeletal muscle, Energievoorziening in de menselijke spier onder fysiologische en pathologische condities
Abstract

Item does not contain fulltext

Published
1996

136. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

Author

Schiller, A., Wevers, R.A., Steenbergen-Spanjers, G.C.H., Blau, N., and Jung, H.H.

Subjects
Genetic defects of metabolism [UMCN 5.1], Neuromuscular development and genetic disorders [UMCN 3.1], nervous system diseases
Abstract

Contains fulltext : 57504.pdf (Publisher’s version ) (Closed access) The authors report the long-term course of two siblings with L-dopa responsive dystonia (DRD) associated with a compound heterozygous mutation in the tyrosine hydroxylase (TH) gene. Both siblings manifested with lower-limb onset generalized DRD and had a sustained response to low-dose L-dopa therapy for over 35 years. Although the l-dopa therapy was delayed up to 20 years after disease onset, there were no cognitive or neurologic sequelae of the long-term catecholamine deficit.

Published
2004

141. Peroxisomal disorders

Author

Wanders, R. J. A., Barth, P. G., Poll-The, B. T., Blau, N., Blaskovics, M. E., Duran, M., Gibson, K. M., Paediatric Metabolic Diseases, Laboratory Genetic Metabolic Diseases, Paediatric Neurology, and Neurology

Published
2003

142. Miscellaneous analyses

Author

Duran, M., Blau, N., Blaskovics, M. E., Gibson, K. M., and Laboratory Genetic Metabolic Diseases

Published
2003

146. Diagnose von Stoffwechselkrankheiten

Author

Hagemann, P, Scholer, A, Hagemann, P ( P ), Scholer, A ( A ), Hersberger, M; https://orcid.org/0000-0002-4472-329X, Blau, N, Hagemann, P, Scholer, A, Hagemann, P ( P ), Scholer, A ( A ), Hersberger, M; https://orcid.org/0000-0002-4472-329X, and Blau, N

Published
2011

147. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Author

Blau, N, Hennermann, J B, Langenbeck, U, Lichter-Konecki, U, Blau, N, Hennermann, J B, Langenbeck, U, and Lichter-Konecki, U

Abstract

This article summarizes the present knowledge, recent developments, and common pitfalls in the diagnosis, classification, and genetics of hyperphenylalaninemia, including tetrahydrobiopterin (BH4) deficiency. It is a product of the recent workshop organized by the European Phenylketonuria Group in March 2011 in Lisbon, Portugal. Results of the workshop demonstrate that following newborn screening for phenylketonuria (PKU), using tandem mass-spectrometry, every newborn with even slightly elevated blood phenylalanine (Phe) levels needs to be screened for BH4 deficiency. Dried blood spots are the best sample for the simultaneous measurement of amino acids (phenylalanine and tyrosine), pterins (neopterin and biopterin), and dihydropteridine reductase activity from a single specimen. Following diagnosis, the patient's phenotype and individually tailored treatment should be established as soon as possible. Not only blood Phe levels, but also daily tolerance for dietary Phe and potential responsiveness to BH4 are part of the investigations. Efficiency testing with synthetic BH4 (sapropterin dihydrochloride) over several weeks should follow the initial 24-48-hour screening test with 20mg/kg/day BH4. The specific genotype, i.e. the combination of both PAH alleles of the patient, helps or facilitates to determine both the biochemical phenotype (severity of PKU) and the responsiveness to BH4. The rate of Phe metabolic disposal after Phe challenge may be an additional useful tool in the interpretation of phenotype-genotype correlation.

Published
2011

150. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

Author

Brun, L., Ngu, L.H., Keng, W.T., Ch'ng, G.S., Choy, Y.S., Hwu, W.L., Lee, W.T., Willemsen, M.A.A.P., Verbeek, M.M., Wassenberg, T., Regal, L., Orcesi, S., Tonduti, D., Accorsi, P., Testard, H., Abdenur, J.E., Tay, S., Allen, G.F., Heales, S., Kern, I., Kato, M., Burlina, A., Manegold, C., Hoffmann, G.F., Blau, N., Brun, L., Ngu, L.H., Keng, W.T., Ch'ng, G.S., Choy, Y.S., Hwu, W.L., Lee, W.T., Willemsen, M.A.A.P., Verbeek, M.M., Wassenberg, T., Regal, L., Orcesi, S., Tonduti, D., Accorsi, P., Testard, H., Abdenur, J.E., Tay, S., Allen, G.F., Heales, S., Kern, I., Kato, M., Burlina, A., Manegold, C., Hoffmann, G.F., and Blau, N.

Abstract

Contains fulltext : 87372.pdf (publisher's version ) (Closed access), OBJECTIVE: To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) deficiency. METHOD: Clinical and biochemical data of 78 patients with AADC deficiency were tabulated in a database of pediatric neurotransmitter disorders (JAKE). A total of 46 patients have been previously reported; 32 patients are described for the first time. RESULTS: In 96% of AADC-deficient patients, symptoms (hypotonia 95%, oculogyric crises 86%, and developmental retardation 63%) became clinically evident during infancy or childhood. Laboratory diagnosis is based on typical CSF markers (low homovanillic acid, 5-hydroxyindoleacidic acid, and 3-methoxy-4-hydroxyphenolglycole, and elevated 3-O-methyl-l-dopa, l-dopa, and 5-hydroxytryptophan), absent plasma AADC activity, or elevated urinary vanillactic acid. A total of 24 mutations in the DDC gene were detected in 49 patients (8 reported for the first time: p.L38P, p.Y79C, p.A110Q, p.G123R, p.I42fs, c.876G>A, p.R412W, p.I433fs) with IVS6+ 4A>T being the most common one (allele frequency 45%). CONCLUSION: Based on clinical symptoms, CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency. Treatment options are limited, in many cases not beneficial, and prognosis is uncertain. Only 15 patients with a relatively mild form clearly improved on a combined therapy with pyridoxine (B6)/pyridoxal phosphate, dopamine agonists, and monoamine oxidase B inhibitors.

Published
2010

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