Disorder of bile acid synthesis

Orpha code: 79168OMIM code:

Definition

A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.

Disease data
Classification

Category

ORPHA code
79168
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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