HMG-CoA synthase deficiency

HMG-CoA synthase (HMGCS) deficiency is an autosomal recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial HMGCS2 is involved in hepatic ketogenesis, and HMGCS2 deficiency causes hypoketotic hypoglycaemia after prolonged fasting. To date, no mutations have been identified in the human cytosolic HMGCS1.