3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency (OMIM 250620) is an autosomal recessive inborn error of valine catabolism characterized by severely delayed psychomotor development, progressive neurodegeneration, recurrent metabolic attacks with intercurrent illness, increased lactic acid, cerebral atrophy, and brain lesions in the basal ganglia. HIBCH gene defect is a very rare organic aciduria and also might cause secondary mitochondrial dysfunction. We report a 12-month-old severely affected female infant with a novel homozygous c.556C>G; p.R186G variant in the HIBCH gene presenting with axial hypotonia, severe developmental delay, and brain lesions in the basal ganglia and provide an overview of the literature. When suspected, newborn and selective screening with tandem mass analyses should include hydroxy-C4-carnitine to diagnose this disorder. However, in some cases, mostly in those with milder phenotype, diagnosis may be missed due to normal hydroxy-C4 carnitine levels.
Mol Syndromol

中文翻译：

---

具有新型HIBCH基因突变的土耳其儿童中的3-羟基异丁酰-CoA水解酶缺乏症和文献综述

3-羟基异丁酰辅酶A水解酶（HIBCH）缺乏症（OMIM 250620）是缬氨酸分解代谢的常染色体隐性先天性错误，其特征在于严重延迟了精神运动发育，进行性神经变性，并发疾病的反复代谢发作，乳酸增加，脑萎缩和脑部病变在基底节。HIBCH基因缺陷是一种非常罕见的有机酸尿症，也可能导致继发性线粒体功能障碍。我们报道了一个患有新的纯合子c.556C> G的12个月大受严重影响的女婴。HIBCH中的p.R186G变体该基因呈现出轴向性肌张力低下，严重的发育迟缓和基底神经节的脑损伤，并提供了文献综述。当怀疑时，通过串联质量分析进行的新生儿和选择性筛查应包括羟基-C4-肉碱以诊断这种疾病。但是，在某些情况下，大多数是在那些表型较轻的人中，由于正常的羟基C4肉碱水平可能会漏诊。
摩尔综合症