Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) is the first enzyme of the pentose phosphate pathway, providing reducing power to all cells in the form of reduced form of nicotinamide adenine dinucleotide phosphate. G6PD deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. G6PD deficiency is an X-linked, hereditary genetic defect caused by mutations in the G6PD gene. Clinical presentations include acute hemolytic anemia, chronic hemolytic anemia, neonatal jaundice, and favism, which is usually triggered by an exogenous agent. (Turk Arch Ped 2009; 44 Suppl: 35-8)