2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
| Autor: | Jos P.N. Ruiter, Rodney J. Pollitt, R. J. A. Wanders, Simon E. Olpin, Nigel J. Manning, J. Mcmenamin, G. T. N. Besley |
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| Přispěvatelé: | Paediatric Metabolic Diseases, Laboratory Genetic Metabolic Diseases |
| Rok vydání: | 2002 |
| Předmět: |
Adult
Male medicine.medical_specialty Pediatrics Biology Gas Chromatography-Mass Spectrometry Sheltered employment HSD17B10 Electron Transport Dysarthria Internal medicine Genetics medicine Humans Isoleucine 2-methyl-3-hydroxybutyryl-CoA dehydrogenase Amino Acid Metabolism Inborn Errors Genetics (clinical) Dystonia Clinical course 3-Hydroxyacyl CoA Dehydrogenases Electroencephalography Acetyl-CoA C-Acyltransferase medicine.disease Dehydrogenase deficiency 3-Hydroxyacyl-CoA Dehydrogenase Alcohol Oxidoreductases Phenotype Endocrinology medicine.symptom Tomography X-Ray Computed Biomarkers Psychomotor Performance |
| Zdroj: | Journal of inherited metabolic disease, 25(6), 477-482. Springer Netherlands |
| ISSN: | 0141-8955 |
| Popis: | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deterioration may be rapid or may follow a slower decline with a possible stabilization of the disorder on a low-protein diet and appropriate medication. We report a 23-year-old man with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency with a very mild clinical course. He had apparently normal early development and remained relatively well until the age of 6 years, when he contracted measles. Following this illness, his motor skills and school progress deteriorated. At 15 years he had significant dysarthria, and generalized rigidity with some dystonic and unusual posturing. He was then treated with a low-protein high-carbohydrate diet with a good response in terms of balance and gait. At 18 years he was given benzhexol (Artane), increased slowly from 2 mg to 6 mg daily, resulting in improvement in tremor and dystonia. At 23 years he can dress himself and works in sheltered employment but remains severely dysarthric. |
| Databáze: | OpenAIRE |
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