OnlineIMD
Beta-ureidopropionase deficiency
Synonym(s)
beta-alanine synthase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
UPB1
/ Ureidopropionase 1
22q11.23
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Ureidopropionase
Disease group(s)
16.1 Disorders of pyrimidine metabolism