Bile acid CoA ligase deficiency and defective amidation
MONDO:0017165Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.
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)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of bile acid synthesis
(2)
Steroid metabolism disease
(1)
Disease by developmental or physiological process
(0)