Congenital bile acid synthesis defect type 4

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Name:
Congenital bile acid synthesis defect type 4
Description:
Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
ORPHAcode:
79095
Synonyms:
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14