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 disorder
Brite
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-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06024  Valine, leucine and isoleucine degradation
   H00175  Propionic acidemia
Pathway
hsa00280  Valine, leucine and isoleucine degradation
Network
nt06024 Valine, leucine and isoleucine degradation
Gene
PCCA [HSA:5095] [KO:K01965]
PCCB [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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