一名患有新型HIBCH复合杂合突变的伊朗儿童的3-羟基异丁酰辅酶A水解酶缺乏症
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations.
作者信息
Karimzadeh Parvaneh, Saberi Mohammad, Sheidaee Kobra, Nourbakhsh Mitra, Keramatipour Mohammad
机构信息
Department of Pediatric Neurology Mofid Children Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.
Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran.
出版信息
Clin Case Rep. 2019 Jan 15;7(2):375-380. doi: 10.1002/ccr3.1998. eCollection 2019 Feb.
We report a patient presenting with developmental delay, Leigh-like abnormalities on MRI and elevated 3-hydroxyisovaleric acid levels. Upon whole-exome sequencing, he was diagnosed with 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH deficiency should be considered in the differential diagnosis of Leigh-like disease and/or organic aciduria.
我们报告了一名患者，其表现为发育迟缓、MRI显示类似 Leigh 病的异常以及3-羟基异戊酸水平升高。经全外显子组测序，他被诊断为3-羟基异丁酰辅酶A水解酶（HIBCH）缺乏症，因此接受了特定的饮食治疗。在鉴别诊断类似 Leigh 病和/或有机酸尿症时应考虑HIBCH缺乏症。
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