Gallensäuresynthesedefekt, kongenitaler, Typ 4
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
OMIM: 214950
Synonyme
- Alpha-Methylacyl-CoA-Racemase-Mangel
- INTRAHEPATIC CHOLESTASIS WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID
- TRIHYDROXYCOPROSTANIC ACID IN BILE
Genorte
- AMACR(OMIM 604489)