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hrp0098p3-80 | Diabetes and Insulin | ESPE2024

Case Series of Five Patients with Thiamine-Responsive Megaloblastic Anemia in the Pakistani Population, a rare form of monogenic diabetes mellitus.

Arshad Kashan , Shaukat Muhammad , Saddam Hussain Syed , Aftab Sommayya

Background: Thiamine-responsive megaloblastic anemia (TRMA) syndrome, is an autosomal recessive disorder marked by sensorineural hearing loss, diabetes mellitus, and megaloblastic anemia caused by mutations in the SLC19A2 gene.Objective: We are reporting five patients with TRMA syndrome in the Pakistani population.Case Summary: We report five male patients, from two differ...

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Case Series of Five Patients with Thiamine-Responsive Megaloblastic Anemia in the Pakistani Population, a rare form of monogenic diabetes mellitus.

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