Multifactorial induction of presentation of G6PD defect

Glucose-6-phosfate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway, leading to antioxidants that protect cells against oxidative damage. This genetic disease is characterized by a wide spectrum of clinical manifestations, both in different people and in the same patient. It seems to be due to the large number of genetic errors that can determine the defect and to the multiplicity of triggers able to inducing the hemolytic anemia tipical of this disease. This is what we present in the following case report, subject normally eating fava beans, who had never associated the ingestion with discomfort.