Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease

Two brothers with congenital nonspherocytic hemolytic anemia and neurologic disease were found to have erythrocyte and leukocyte phosphoglycerate kinase deficiency. Elevated levels of red cell dihydroxyacetone phosphate and 2,3-diphosphoglycerate were documented as well. Erythrocyte phosphoglycerate kinase deficiency is X-chromosome linked, and the present report brings the number of male hemizygous individuals to five. All are mentally retarded and some have additional neurologic defects