A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia

A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia

Abstract Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency (mHS deficiency) is a rare autosomal recessive inborn error of ketogenesis caused by a mutation in the HMGCS2 gene, which is characterized by non‐(hypo)‐ketotic hypoglycemia, lethargy, and hepatomegaly during acute infection a...

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Bibliographic Details
Main Authors: Tomoko Lee, Yuichi Takami, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hideo Sasai, Hiroki Otsuka, Yasuhiro Takeshima, Toshiyuki Fukao
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:JIMD Reports
Subjects:
fatty liver
glutarate
HMG‐CoA synthase deficiency
ketogenesis
Online Access:https://doi.org/10.1002/jmd2.12051

Internet

https://doi.org/10.1002/jmd2.12051

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