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2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man
Author(s) -
Olpin S. E.,
Pollitt R. J.,
McMenamin J.,
Manning N. J.,
Besley G.,
Ruiter J. P. N.,
Wanders R. J. A.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1021251202287
Subject(s) - dystonia , dysarthria , medicine , catabolism , endocrinology , pediatrics , audiology , psychology , psychiatry , metabolism
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.