KEGG   DISEASE: Malonyl-CoA decarboxylase deficiency
Entry
H01283                      Disease                                

Name
Malonyl-CoA decarboxylase deficiency
Description
Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01283  Malonyl-CoA decarboxylase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01283  Malonyl-CoA decarboxylase deficiency
Pathway
hsa00410  beta-Alanine metabolism
hsa00640  Propanoate metabolism
hsa04146  Peroxisome
Gene
MLYCD [HSA:23417] [KO:K01578]
Other DBs
ICD-11: 5C50.E1
ICD-10: E72.8
MeSH: C535702
OMIM: 248360
Reference
  Authors
FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J
  Title
The molecular basis of malonyl-CoA decarboxylase deficiency.
  Journal
Am J Hum Genet 65:318-26 (1999)
DOI:10.1086/302492
Reference
  Authors
Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R
  Title
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.
  Journal
J Neurosci Res 65:591-4 (2001)
DOI:10.1002/jnr.1189
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