Roger Syndrome Case Report

  • Hina Ayesha Head of Department of Pediatric Medicine Faisalabad Medical University, Faisalabad Pakistan
  • Ali Asghar Taseer Assistant Professor of Pediatric Medicine Faisalabad Medical University, Faisalabad Pakistan
  • Muhammad Imran Khan Senior Registrar of Pediatric Medicine Allied Hospital, Faisalabad Pakistan
Keywords: Roger syndrome

Abstract

Roger syndrome (Thiamin Responsive Megaloblastic Anemia Syndrome), is characterized by megaloblastic anemia, deafness and diabetes mellitus. It is an autosomal recessive disorder due to mutation in SLC 19A2 gene that leads to defective thiamine transport protein. So, thiamine is not absorbed and effectively utilized by body from diet.

Published
2020-07-02