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3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency
Author(s) -
Sutton V. R.,
O'Brien W. E.,
Clark G. D.,
Kim J.,
Wanders R. J. A.
Publication year - 2003
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:1024083715568
Subject(s) - urine , dehydrogenase , cortical blindness , blindness , enzyme , medicine , endocrinology , chemistry , biochemistry , optometry
Summary: 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.