congenital bile acid synthesis defect type 2; cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency

Pathology

liver disease

Genetics

• associated with defects in AKR1D1

Laboratory

• absence or low levels of:
  • plasma chenodeoxycholic acid
  • plasma cholic acid;
  • urine chenodeoxycholic acid
  • urine cholic acid

More general terms

• congenital bile acid synthesis defect

Database

• OMIM: https://mirror.omim.org/entry/235555