Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report

• Glavni autori: Hao Liu (Autor), Jing-kun Miao (Autor), Chao-wen Yu (Autor), Ke-xing Wan (Autor), Juan Zhang (Autor), Zhao-jian Yuan (Autor), Jing Yang (Autor), Dong-juan Wang (Autor), Yan Zeng (Autor), Lin Zou (Autor)
• Format: Knjiga
• Izdano: BMC, 2019-10-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Abstract Background Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. It is a very rare disease with only a few patients reported worldwide, m...