Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) is expressed in all tissues, where it catalyses the first step in the pentose phosphate pathway. G6PD deficie ncy is prevalent throughout tropical and subtropical regions of the world b ecause of the protection it affords during malaria infection. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundic e and acute haemolytic anaemia, triggered by infection and the ingestion of certain drugs and broad beans (favism). A rare but more severe form of G6P D deficiency is found throughout the world and is associated with chronic n on-spherocytic haemolytic anaemia. Many deficient variants of G6PD have bee n described. DNA sequence analysis has shown that the vast majority of thes e are caused by single amino acid substitutions. The three-dimensional stru cture of G6PD shows a classical dinucleotide binding domain and a novel bet a + alpha domain involved in dimerization.