Krankheit

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