Glucose-6-phosphatase deficiency-diagnosis at presentation, case report and review of literature

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency,the most common enzyme deficiency worldwide causes a spectrum of disease including neonatal hyperbilirubinemia with acute and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean or Middle-Eastern descent.Approximately 400 million people are affected worldwide.This is a case of a 37 year old man who presented with a typical clinical and haematological picture of favism. There was no initial difficulty in confirming Glucose-6- phosphate dehydrogenase (G6PD) deficiency because the enzyme concentrations were compatible with heterozygosity for G6PD deficiency. It is uncommon for the patient to present with low G6PD level at presentation,hence this case is being reported.