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2-甲基-3-羟基丁酰辅酶A脱氢酶缺乏症：异亮氨酸分解代谢受损，表现为神经退行性疾病。

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

作者信息

Sass Jörn Oliver, Forstner Rosemarie, Sperl Wolfgang

机构信息

Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, D-79106, Freiburg, Germany.

出版信息

Brain Dev. 2004 Jan;26(1):12-4. doi: 10.1016/s0387-7604(03)00071-8.

DOI:10.1016/s0387-7604(03)00071-8
PMID:14729408
Abstract

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 performed if urinary metabolites suggest impaired catabolism of isoleucine.

摘要

我们描述了一例最近报道的2-甲基-3-羟基丁酰辅酶A脱氢酶（MHBD）缺乏症，这是一种异亮氨酸代谢紊乱疾病。观察到明显的脑萎缩和基底神经节的对称性改变，并强调了特定酶学检测的重要性，如果尿代谢产物提示异亮氨酸分解代谢受损，就应进行这些检测。

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