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 hyperbilirubi- nemia 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 concentra- tions 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.