Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and severe metabolic acidosis were observed in all cases....

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Detalles Bibliográficos
Autores principales: Ago, Yasuhiko, Otsuka, Hiroki, Sasai, Hideo, Abdelkreem, Elsayed, Nakama, Mina, Aoyama, Yuka, Matsumoto, Hideki, Fujiki, Ryoji, Ohara, Osamu, Akiyama, Kazumasa, Fukui, Kaori, Watanabe, Yoriko, Nakajima, Yoko, Ohnishi, Hidenori, Ito, Tetsuya, Fukao, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480138/
https://www.ncbi.nlm.nih.gov/pubmed/32952630
http://dx.doi.org/10.3892/etm.2020.9166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480138/
https://www.ncbi.nlm.nih.gov/pubmed/32952630
http://dx.doi.org/10.3892/etm.2020.9166

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