Abstract
A 3-year-old girl with pyruvate kinase deficiency has been investigated together with her family. Erythrocyte survival studies with 51Cr-labeled donor cells in the patient's circulation showed a half life of only 17 days. Direct Coomb's test was negative and cold agglutinin titres normal. Cholecystography showed gallstones and no gallbladder excretion. The pyruvate kinase activity in erythrocytes at 25° and pH 7.5 was only 9.5 and 6 μM substrate turnover/min 1011, respectively, on two occasion, whereas 2 SD of blood donors is 25.0–49.0. Corresponding activities for hexokinase, phosphofructokinase, phosphofructoaldolase, lactate dehydrogenase, glucose 6-phosphate dehydrogenase and glutathion reductase were either within or above normal range. In her crythrocytes adenosine triphosphate was low, adenosine diphosphate normal and 2,3-diphosphoglycerate high. Further studies seem to indicate that the pyruvate kinase in our patient has latered kinetic properties, an abnormal sequence of amino acids. The pyruvate kinase activity in crythrocytes from the patient's mother was low. Similar activities in crythrocytes from the patient's father and brother were at the lower limit of normal. One brother of the maternal grandmother had hemolytic anemia, thrombocytopenia and cholelithiasis, another brother had cholelithiasis and a sister had anemia. The result of further family studies will be reported.
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