Congenital bile acid synthesis defect 4
MONDO:0008967An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Also known as: AMACR deficiency, 2-methylacyl-CoA racemase deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BAS defect type 4, BASD4, CBAS4, bile acid synthesis defect, congenital, type 4, congenital bile acid synthesis defect 4
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Alpha-methylacyl-CoA racemase deficiency
(2)
Disease of genetic or genomic mechanism
(2)
Peroxisomal disease
(2)
Congenital bile acid synthesis defect
(1)