A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia-Reference-Cited by-同舟云学术

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

Published:2019-06-03 Issue:1 Volume:48 Page:19-25
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Lee Tomoko¹^ORCID,Takami Yuichi²,Yamada Kenji³,Kobayashi Hironori³,Hasegawa Yuki³,Sasai Hideo⁴,Otsuka Hiroki⁴,Takeshima Yasuhiro¹,Fukao Toshiyuki⁴

Affiliation:

1. Department of PediatricsHyogo College of Medicine Nishinomiya Japan

2. Department of PediatricsJapanese Red Cross Society Himeji Hospital Himeji Japan

3. Department of PediatricsShimane University Faculty of Medicine Izumo Japan

4. Department of PediatricsGraduate School of Medicine, Gifu University Gifu Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12051

Reference22 articles.

1. Inborn errors of ketogenesis and ketone body utilization

2. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase: a control enzyme in ketogenesis

3. Human Mitochondrial HMG CoA Synthase: Liver cDNA and Partial Genomic Cloning, Chromosome Mapping to 1p12-p13, and Possible Role in Vertebrate Evolution

4. Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene

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