KEGG   DISEASE: HMG-CoA synthase (HMGCS) deficiencyHelp
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01123  HMG-CoA synthase (HMGCS) deficiency
  Mitochondrial diseases
   H01123  HMG-CoA synthase (HMGCS) deficiency
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E71  Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
    H01123  HMG-CoA synthase (HMGCS) deficiency
BRITE hierarchy
Pathway
hsa00072  Synthesis and degradation of ketone bodies
hsa00280  Valine, leucine and isoleucine degradation
hsa00650  Butanoate metabolism
hsa00900  Terpenoid backbone biosynthesis
Gene
HMGCS2 [HSA:3158] [KO:K01641]
Other DBs
ICD-10: E71.3
MeSH: C567784
OMIM: 605911
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)
DOI:10.1016/j.jmb.2010.03.034
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)
DOI:10.1007/s004390100554
Reference
  Authors
Sass JO
  Title
Inborn errors of ketogenesis and ketone body utilization.
  Journal
J Inherit Metab Dis 35:23-8 (2012)
DOI:10.1007/s10545-011-9324-6

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