Congenital bile acid synthesis defect type 4

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Congenital bile acid synthesis defect type 4

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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Congenital bile acid synthesis defect type 4?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.