Glucose-6-phosphate dehydrogenase (G6PD) deficiency in girls: a diagnosis not to be missed: a case report

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) is a polymorphic enzyme encoded by the X chromosome. It protects the cell against hydrogen peroxide-induced damage and ensures an oxidative balance profile within the cell. The disease is more frequent in males, and rare cases are described in girls. We report an observation of a 7-month-old Moroccan girl hospitalized for acute hemolysis after consuming fava beans. The diagnosis of a G6PD deficiency was retained after an assay of the enzymatic activity that returned collapsed. After initial conditioning, a transfusion of phenotyped retinal ganglion cells (RGCs) is performed. The rapid evolution is favorable, and the child is discharged after therapeutic education sessions for the parents on the products to be avoided. Through this observation, we insist on the importance of neonatal screening in regions with a high prevalence of hemolysis in order to avoid diagnostic delays and also to prioritize the evaluation to be requested in an acute hemolysis state, to propose an education articulated around a preventive approach in children with this disease.