bile acid synthesis defect—congenital—1

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bile acid synthesis defect—congenital—12016-11-24T21:41:41+00:00

bile acid synthesis defect—congenital—1

METABOLISM

Definition A condition (OMIM:607765) characterised by a primary defect in bile synthesis leading to progressive liver disease.

Clinical features Neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.

Molecular pathology Defects of HSD3B7, which encodes a membrane-associated endoplasmic reticulum enzyme involved in the synthesis of bile acids from cholesterol, cause bile acid synthesis defect—congenital—1. 

Synonym 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase deficiency 

References http://www.uniprot.org/uniprot/Q9H2F3

http://www.omim.org/entry/607765

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