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Congenital bile acid synthesis defect type 4

Go to external page http://www.orpha.net/ORDO/Orphanet_79095


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.

Synonyms: 2-methylacyl-CoA racemase deficiency BASD4 Alpha-methyl-acyl-CoA racemase deficiency AMACR deficiency Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

MeSH:C535444

OMIM:214950

ICD-10:K76.8

UMLS:C3280428

OMIM:614307

UMLS:C1858328

notation

ORPHA:79095