Clinical Information

The glucose 6-phosphate isomerase (GPI) enzyme interconverts glucose 6-phosphate and fructose 6-phosphate in the second step of glycolysis. GPI deficiency (OMIM 613470) is a cause of nonspherocytic hemolytic anemia and has been reported in patients from varied ethnic backgrounds. As investigational methods have improved, the number of confirmed diagnoses has increased, although the disorder remains rare. Inheritance is autosomal recessive. Clinically significant GPI deficiency manifests in variable severity ranging from mild to severe anemia, with jaundice, gallstones and splenomegaly. Some cases of neonatal death/hydrops fetalis have been reported to be associated with GPI deficiency A subset of patients shows neurologic impairment and granulocyte dysfunction. Heterozygotes are expected to have a normal phenotype.