抄録
A 6 years old boy with congenital non spherocytic hemolytic anemia and neurologic disease was found to have erythrocyte and leukocyte phosphoglycerate kinase deficiencies.
He was treated with exchange transfusion, because of severe jaundice at birth, but growth development was normal until about 2 years old when he was suddenly suffered from convulsion and found to be anemic. Speech and gait disturbunce were noted at 4 years old and tremor of extremities also became apparent. Then he had repeated hemolytic episodes with marked hemoglobinuria.
On admission, he was anemic with slight jaundice but there was no hepatosplenoomegaly. The hematologic examination showed RBC 3.67×106/mm3, Hb 9.3 g/dl Ht 26% and reticulocytes 12.5%. The peripheral blood smear revealed anisocytosis, target cells and acanthrocytes. 51Cr half life of RBC was 12 days. No abnomalities were noted in studies on hemoglobin, antibodies and osmic fragility of erythrocyte.
Biochemical studies of glycolytic enzymes and intermediates of his hematocyte showed that PGK-ase activity of these erythrocytes and leukocytes was remarkably reduced and elevated levels of red cell FDP, DHAP, GA3P and 2,3-DPG were documented as well. The RBC enzyme levels of his father and elder brother were within normal range, although another brother was died of severe jaundice soon after birth.
