Neonatal cholestasis – A case report on congenital bile acid synthetic defect type 4 and severe anemia

نویسندگان

چکیده

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

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ژورنال

عنوان ژورنال: Indian Journal of Case Reports

سال: 2022

ISSN: ['2454-129X', '2454-1303']

DOI: https://doi.org/10.32677/ijcr.v8i6.3363