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Article
| IMSEAR
| ID: sea-222195
ABSTRACT
Congenital defects of bile acid synthesis are rare disorders that cause progressive liver dysfunction. We present a case of alpha methyl acyl-CoA racemase (AMACR) deficiency with non-spherocytic hemolytic anemia who presented with rapidly progressive severe cholestasis and liver failure with normal gamma-glutamyl transferase levels. After extensive investigation, he was found to have AMACR deficiency with HBB gene mutation associated with non-spherocytic hemolytic anemia possibly explaining the severity of the disease. To the best of our knowledge, a similar association has not been reported so far.