3‐Hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase 2 gene (HMGCS2) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid‐derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are responsible for HMG‐CoA synthase deficiency (HMGCSD). The aim of present study was to investigate the association of mutation in the HMGCS2 gene with HMGCSD in a patient with atypical symptoms.

中文翻译：

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HMGCS2 基因中的新型纯合突变与伊朗患者的 HMGCSD 之间的关联。

3-羟基-3-甲基戊二酰辅酶A (HMG-CoA)合酶2基因( HMGCS2 )编码一种线粒体酶，催化生酮代谢途径的第一个反应，在碳水化合物缺乏期间（例如禁食）为各个器官提供脂质来源的能量。该基因的突变导致 HMG-CoA 合酶缺乏症 (HMGCSD)。本研究的目的是调查具有非典型症状的患者中HMGCS2基因突变与 HMGCSD 的关联。