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

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 and/or pro...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Lee, Tomoko, Takami, Yuichi, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Sasai, Hideo, Otsuka, Hiroki, Takeshima, Yasuhiro, Fukao, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6606983/
https://ncbi.nlm.nih.gov/pubmed/31392109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12051
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