Bile acid synthesis defect (5B-reductase deficiency) a rare cause of cholestasis in an infant

Abstract

Bile acid synthesis disorders (BASD) are rare inborn errors of metabolism and its presentation includes- neonatal cholestasis, neurologic disease or deficiency of fat-soluble-vitamins. 1The trait features of these diseases are failure to produce normal bile acids, which leads to accumulation of unusual bile acids and bile acid intermediaries in liver and blood. Pathophysiological manifestations are due to deficiency of bile acids in gastrointestinal tract and accumulation of bile acid intermediates. Delay in initiating treatment can result in progressive chronic liver disease and liver failure. Bile acid therapy can lead to remarkable clinical response, if disorder is recognized earlier and liver transplant can be averted. Here we present an infant with cholestatic jaundice with chronic liver disease and subdural hematoma who was diagnosed to have 5 beta reductase deficiency.