Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency

Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency

Abstract Importance Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase deficiency is a rare and underdiagnosed disorder with fewer than 30 patients reported worldwide. The application of whole‐exome sequencing in patients could improve our understanding of this disorder. Objective To id...

Full description

Bibliographic Details
Main Authors: Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Pediatric Investigation
Subjects:
HMGCS2 mutation
Hypoketotic hypoglycemia
Mitochondrial HMG‐CoA synthase deficiency
Pediatric intensive care unit
Whole‐exome sequencing
Online Access:https://doi.org/10.1002/ped4.12130

Internet

https://doi.org/10.1002/ped4.12130

Similar Items