2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease

被引：29

作者：

Sass, JO ^{[1
]}

Forstner, R

Sperl, W

机构：

[1] Univ Innsbruck, Klin Kinder & Jugendheilkunde, A-6020 Innsbruck, Austria

[2] Univ Freiburg Klinikum, Zentrum Kinderheilkunde & Jugendmed, D-79106 Freiburg, Germany

[3] Landeskliniken Salzburg, Rontgendiagnost Zent Inst, Salzburg, Austria

[4] Landesklin Kinder & Jugendheilkunde, Salzburg, Austria

来源：

BRAIN & DEVELOPMENT | 2004年 / 26卷 / 01期

关键词：

isoleucine; 2-methyl-3-hydroxy-butyryl-CoA dehydrogenase; 2-methyl-acetoacetyl-CoA thiolase; beta-ketothiolase; ketolysis; tiglyl glycine; tiglyl glutamic acid; 2-methyl-3-hydroxy-butyric acid; brain atrophy;

D O I：

10.1016/S0387-7604(03)00071-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a further case of recently reported 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a disorder of isoleucine metabolism. The development of pronounced brain atrophy and symmetrical alterations of the basal ganglia were observed and the importance of specific enzymatic tests is emphasized, which should be per-formed if urinary metabolites suggest impaired catabolism of isoleucine. (C) 2003 Elsevier B.V. All rights reserved.

引用

页码：12 / 14

页数：3

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