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

• Главные авторы: Hao Liu (Автор), Jing-kun Miao (Автор), Chao-wen Yu (Автор), Ke-xing Wan (Автор), Juan Zhang (Автор), Zhao-jian Yuan (Автор), Jing Yang (Автор), Dong-juan Wang (Автор), Yan Zeng (Автор), Lin Zou (Автор)
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• Опубликовано: BMC, 2019-10-01T00:00:00Z.
• Предметы: article
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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...