ORPHA:79095

Congenital bile acid synthesis defect type 4

Also called 2-methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BASD4, Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

All ages

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:79095 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.