Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan

AbstractTwo kindreds of phosphofructokinase (PFK) deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy were found in Japan. Both probands had jaundice, gallstones, and slight to moderate degree of exercise intolerance. They showed decreased level of red cell PFK activity and no increase of blood lactate in forearm ischemic exercise test. We studied these probands' red cell PFKs by partial purification and condensation. Muscle type isozyme of PFK in both cases was not demonstrable in starch gel electrophoresis and DEAE‐Sephadex chromatography. The clinical symptoms are considered to be due to a defect of muscle type isozyme.