Bile acid synthesis defects, congenital, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver. More detailed information about the symptoms, causes, and treatments of Bile acid synthesis defects, congenital, 3 is available below.
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