OnlineIMD
PCCA-related propionic aciduria
Synonym(s)
Propionyl-CoA carboxylase alpha subunit deficiency
Type
Disease
External link(s)
IEMbase
VMH
Gene
PCCA
/ Propionyl-CoA Carboxylase Subunit Alpha
13q32.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Propionyl-CoA carboxylase subunit alpha, mitochondrial
Multimer
Propionyl-CoA carboxylase
Pathway
Branched-chain amino acid metabolism
Parent entry
Propionic aciduria