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Congenital bile acid synthesis "defect," type 2
- Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
- ... the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. This condition is characterized by cholestasis, a condition ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2. More About This Health Condition 3-oxo-5- ...
- ... of the same disorder. Because most individuals with congenital bile acid synthesis defect type 4 do not survive infancy, it is unclear whether they would have later developed the neurological symptoms seen in adults with AMACR deficiency. 2-methylacyl-CoA racemase AMACR_HUMAN AMACRD CBAS4 RACE ...
- ... the HSD3B7 gene have been found to cause congenital bile acid synthesis ... mutations delete one or two DNA building blocks (base pairs) from the gene ...
