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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:
a) plasma chenodeoxycholic acid
b) plasma cholic acid;
c) urine chenodeoxycholic acid
d) urine cholic acid
General
congenital bile acid synthesis defect
Database Correlations
OMIM 235555
References
OMIM :accession 235555