KEGG   DISEASE: H01123Help
Entry
H01123                      Disease                                

Name
HMG-CoA synthase (HMGCS) deficiency
Description
HMG-CoA synthase (HMGCS) deficiency is a 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.
Category
Inherited metabolic disease; Mitochondrial disease
BRITE hierarchy
Pathway
Synthesis and degradation of ketone bodies
Valine, leucine and isoleucine degradation
Butanoate metabolism
Terpenoid backbone biosynthesis
Gene
HMGCS2 [HSA:3158] [KO:K01641]
Marker
Dicarboxylic aciduria without ketonuria
Increase in serum free fatty acids
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Shafqat N, Turnbull A, Zschocke J, Oppermann U, Yue WW
  Title
Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.
  Journal
J Mol Biol 398:497-506 (2010)
Reference
  Authors
Aledo R, Zschocke J, Pie J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG
  Title
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
  Journal
Hum Genet 109:19-23 (2001)
Reference
  Authors
Sass JO
  Title
Inborn errors of ketogenesis and ketone body utilization.
  Journal
J Inherit Metab Dis 35:23-8 (2012)

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