3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

被引：9

作者：

Karimzadeh, Parvaneh ^{[1
]}

Saberi, Mohammad ^{[2
]}

Sheidaee, Kobra ^{[1
]}

Nourbakhsh, Mitra ^{[3
]}

Keramatipour, Mohammad ^{[2
]}

机构：

[1] Shahid Beheshti Univ Med Sci, Mofid Children Hosp, Dept Pediat Neurol, Tehran, Iran

[2] Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

[3] Iran Univ Med Sci, Dept Biochem, Fac Med, Tehran, Iran

来源：

CLINICAL CASE REPORTS | 2019年 / 7卷 / 02期

关键词：

HIBCH deficiency; isovaleric acidemia; Leigh-like disease; mitochondrial disorders; valine metabolism; 3-HYDROXYISOVALERIC ACID; DIAGNOSIS; DISORDER;

D O I：

10.1002/ccr3.1998

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message 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.

引用

页码：375 / 380

页数：6

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