3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
| Autor: | W. E. O'Brien, R. J. A. Wanders, J. Kim, V. R. Sutton, G. D. Clark |
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| Přispěvatelé: | Paediatric Metabolic Diseases, Laboratory Genetic Metabolic Diseases |
| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Male
medicine.medical_specialty Developmental Disabilities Epilepsies Myoclonic Biology HSD17B10 Blindness Cortical Myoclonic Seizures Internal medicine Genetics medicine Diet Protein-Restricted Humans Isoleucine Genetics (clinical) chemistry.chemical_classification Cortical blindness 3-Hydroxyacyl CoA Dehydrogenases Infant medicine.disease Enzyme assay Alcohol Oxidoreductases Enzyme Endocrinology chemistry 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase biology.protein Acids Metabolism Inborn Errors Organic acid Urine organic acids |
| Zdroj: | Journal of inherited metabolic disease, 26(1), 69-71. Springer Netherlands |
| ISSN: | 0141-8955 |
| DOI: | 10.1023/a:1024083715568 |
| Popis: | A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enzyme activity was normal and he was subsequently found to have 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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