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Summary
PYRUVATE KINASE DEFICIENCY
266200
OMIM = Online Medalian Inheritance of Men
766
1q21
  • immunization
  • splenectomy
  • transfusions
rare autosomal recessive most common enzymopathy of anaerobic glycolysis causing hemolytic anemia, more than 130 different mutations secondary iron overload can lead to chronic liver disease and cirrhosis [Hilgard 2005]
symptoms
anemia
cirrhosis or fibrosis of liver
gallstones, cholelithiasis
hydrops fetalis
jaundice
onset, infant
onset, newborn
splenomegaly (large spleen)
laboratory finding
Pyruvate kinase5.0025.00 100.00% of normalerythrocytes
Retikulocytes increasedblood
Bilirubin increasedserum
Thrombocytes, Platelets increasedblood
Literature
Iacobazzi Vet al.The structure and organisation of the human carnitine/acylcarnitine translocase (CACT1) gene2Biochem Biophys Res Commun2523770-7741998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Pollitt RJLeonrad JVProspective surveillance study of medium cahin acyl-CoA dehydrogenase deficiency in the UKArch Dis Child792116-1191998