Pyruvate kinase deficiency

Published on October 1, 2007 Updated on July 31, 2016   40 min

A selection of talks on Haematology

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Red cell pyruvate kinase deficiency, firstly identified in the early 60s by Valentine and coworkers is the most frequent enzyme abnormality of the glycolytic pathway, causing hereditary nonspherocytic haemolytic anemia. The disease is transmitted as an autosomal recessive trait, clinical symptoms usually occurring in compound heterozygotes for two mutant alleles, and in homozygotes, restricted to a limited number of cosanguineous families. The degree of haemolysis varies widely, ranging from very mild or fully compensated forms to life-threatening neonatal anemia and jaundice, necessitating exchange transfusions. PK deficiency has a worldwide geographical distribution. Over 400 cases have been described, but many more remain unreported. The prevalence, as assessed by gene frequency studies, has been estimated to be one to 20,000 in the general wide population. Erythrocyte PK is synthesized under the control of the PK-LR gene, located on chromosome 1.
In this presentation, we will first consider the enzyme structure and function, followed by genetic characteristics and clinical, hematological, and diagnostic aspects of PK deficiency. The relation between molecular defect and disease severity and the treatment options will also be considered.