2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency:: An x-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency:: An x-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
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DOI：
10.1203/01.pdr.0000176916.94328.cd
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发表时间：
2005-09-01
影响因子：
3.6
通讯作者：
Ugarte, M
中科院分区：
文献类型：
--
作者：
García-Villoria, J;Ofman, R;Ugarte, M
我们描述了来自两个西班牙家庭的三名患有 2-甲基-3-羟基丁酰-CoA 脱氢酶 (MHBD) 缺乏症的患者，这是最近描述的一种 X 连锁神经退行性先天性异亮氨酸代谢缺陷。其中两名是患有严重乳酸酸中毒的男性，提示线粒体脑病，第三名是一名女性，受影响程度较轻，表明 X 失活存在偏差。分子研究揭示了一个家族中的新错义突变 740A -> G，以及另一个家族中先前描述的突变 388C -> T，分别导致氨基酸取代 N247S 和 R130C。两名男性患者均死亡，其中一名患者尽管接受了异亮氨酸限制饮食治疗，但女性患者在治疗 1 年后病情仍保持稳定。
We describe three patients, from two Spanish families, with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a recently described X-linked neurodegenerative inborn error of isoleucine metabolism. Two of them are males with severe lactic acidosis suggestive of a mitochondrial encephalopathy, and the third is a female who was less severely affected, suggesting skewed X-inactivation. Molecular studies revealed a new missense mutation, 740A -> G, in one family and a previously described mutation, 388C -> T, in the other, causing the amino acid substitutions N247S and R130C, respectively. Both male patients died, one of them despite treatment with an isoleucine-restricted diet, but the disease has remained stable in the female patient after 1 y of treatment.