OnlineIMD
Alpha-methylacyl-CoA racemase deficiency
(CBAS4)
Synonym(s)
Congenital bile acid synthesis defect type 4
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
AMACR
/ Alpha-methylacyl-CoA racemase
5p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Alpha-methylacyl-CoA racemase
Disease group(s)
14.7.2. Disorders of bile acid synthesis