3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

被引：27

作者：

Sutton, VR

O'Brien, WE

Clark, GD

Kim, J

Wanders, RJA

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[3] Neurology, Shreveport, LA USA

[4] Univ Amsterdam, Lab Genet Metabol Dis, Dept Pediat & Clin Chem, Acad Ctr, Amsterdam, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2003年 / 26卷 / 01期

关键词：

D O I：

10.1023/A:1024083715568

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：69 / 71

页数：3

共 2 条

[1] Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency [J].