Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have investigated the relationship between metabolites and clinical phenotypes or the effects of treatment, although 34 patients with HIBCH m...

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Bibliographic Details
Main Authors: Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Pharmacology
Subjects:
HIBCH gene
Leigh/Leigh-like syndrome
C4-OH
2,3-dihydroxy-2-methylbutyrate (23DH2MB)
mitochondrial disorders
children
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2021.605803/full

Internet

https://www.frontiersin.org/articles/10.3389/fphar.2021.605803/full

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