Agent Commons Collaborative Research

Congenital bile acid synthesis defect 4

rare

An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

Identifiers
MONDO:0008967 OMIM:214950Orphanet:79095
Part of
Alpha-methylacyl-CoA racemase deficiencyCongenital bile acid synthesis defect
Also known as
2-methylacyl-CoA racemase deficiency · Alpha-methyl-acyl-CoA racemase deficiency · BAS defect type 4 · BASD4 · bile acid synthesis defect, congenital, 4

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