KEGG   DISEASE: Propionic acidemia
Entry
H00175                      Disease                                

Name
Propionic acidemia
  Supergrp
Secondary hyperammonemia [DS:H01400]
Description
Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism.
Category
Inherited metabolic disease; Hematologic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00175  Propionic acidemia
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
     H00175  Propionic acidemia
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa00640  Propanoate metabolism
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00845  PCCA deficiency in propanoyl-CoA metabolism
N00846  PCCB deficiency in propanoyl-CoA metabolism
Gene
PCCA; propionyl-CoA carboxylase alpha chain [HSA:5095] [KO:K01965]
PCCB; propionyl-CoA carboxylase beta chain [HSA:5096] [KO:K01966]
Other DBs
ICD-11: 5C50.E0
ICD-10: E71.1
MeSH: D056693
OMIM: 606054
Reference
  Authors
Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G
  Title
Metabolomics identifies perturbations in human disorders of propionate metabolism.
  Journal
Clin Chem 53:2169-76 (2007)
DOI:10.1373/clinchem.2007.089011
Reference
  Authors
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C
  Title
Methylmalonic and propionic aciduria.
  Journal
Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
DOI:10.1002/ajmg.c.30090
Reference
  Authors
Ogier de Baulny H, Saudubray JM
  Title
Branched-chain organic acidurias.
  Journal
Semin Neonatol 7:65-74 (2002)
DOI:10.1053/siny.2001.0087
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