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

Authors

  • Sufla  Saxena

DOI:

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

Keywords:

Alpha-methyl acyl-CoA racemase, Anemia, Bile acid synthetic disorder

Abstract

Congenital defects of bile acid synthesis are rare disorders that cause progressive liver dysfunction. We present a case of alpha methylacyl-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.

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Published

2022-07-13

Issue

Section

Case Report

How to Cite

Neonatal cholestasis – A case report on congenital bile acid synthetic defect type 4 and severe anemia. (2022). Indian Journal of Case Reports, 8(6), 163-165. https://doi.org/10.32677/ijcr.v8i6.3363

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