HMG-CoA synthase deficiency

Definition:

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.

References:

[1]. Jörn Oliver Sass, et al. Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis. 2012 Jan;35(1):23-8. [Content Brief]

[2]. Naeem Shafqat, et al. Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design. J Mol Biol. 2010 May 14;398(4):497-506. [Content Brief]

[3]. R Aledo, et al. Genetic basis of mitochondrial HMG-CoA synthase deficiency. Hum Genet. 2001 Jul;109(1):19-23. [Content Brief]

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