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

• Main Authors: Hao Liu (Author), Jing-kun Miao (Author), Chao-wen Yu (Author), Ke-xing Wan (Author), Juan Zhang (Author), Zhao-jian Yuan (Author), Jing Yang (Author), Dong-juan Wang (Author), Yan Zeng (Author), Lin Zou (Author)
• Format: Knjiga
• Izdano: BMC, 2019-10-01T00:00:00Z.
• Teme: article
• Online dostop: 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...