Pyruvate kinase deficiency. I. Clinical and hematological observations (author's transl)

Clinical and hematological studies were performed on ten homozygous and seven heterozytous individuals with pyruvate kinase deficiency, aged between 2 and 71 years. Five of the homozygotes were splenectomized. With the exception of a decreased enzyme activity between 41 and 55 per cent and minor cha...

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Bibliographic Details
Published inMonatsschrift fur Kinderheilkunde Vol. 124; no. 1; p. 1
Main Authors Schröter, W, Wonneberger, B
Format Journal Article
LanguageGerman
Published Germany 01.01.1976
Subjects
Adenosine
Adenosine Triphosphate
Adolescent
Adult
Aged
Anemia, Hemolytic - etiology
Aspartate Aminotransferases - metabolism
Child
Deficiency Diseases - enzymology
Erythrocyte Count
Female
Glucosephosphate Dehydrogenase - metabolism
Hemoglobins - analysis
Hemolysis
Heterozygote
Hexokinase - metabolism
Homozygote
Humans
Male
Phosphofructokinase-1 - metabolism
Pyruvate Kinase - deficiency
Pyruvate Kinase - metabolism
Reticulocytes
Splenectomy
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Summary:Clinical and hematological studies were performed on ten homozygous and seven heterozytous individuals with pyruvate kinase deficiency, aged between 2 and 71 years. Five of the homozygotes were splenectomized. With the exception of a decreased enzyme activity between 41 and 55 per cent and minor changes in their red cell metabolism the heterozygotes showed no abnormal results. In the homozygotes the following results could be demonstrated: 1. Pyruvate kinase activity was decreased to 11 to 35 per cent of normal enzyme activity. 2. There is no relation between the severity of hemolysis and the degree of the enzyme defect. 3. The reticulocyte counts correlated inversely with the hemoglobin concentrations. 4. There is a close correlation between the activities of hexokinase, phosphofructokinase, glucose-6-phosphate dehydrogenase and glutamate oxalacetate transaminase on the one side and reticulocyte counts on the other. 5. Adenosine triphosphate or adenosine reduced the increased autohemolysis in all cases. 6. Following splenectomy, anemia was less pronounced than before. Splenectomized patients did not need further transfusions, though hemolysis persisted.