PYRUVATE KINASE DEFICIENCY | |
PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; PK DEFICIENCY | |
266200
OMIM = Online Mendelian Inheritance of Men | |
766 | |
Pyruvate kinase PKLR | |
2.7.1.40 | |
1q22 |
|
D55.2 | |
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] | |
Laboratory findings | Bilirubin inc (serum) Pyruvate kinase dec (erythrocytes) Retikulocytes inc (blood) Thrombocytes, Platelets inc (blood) |
Symptoms | anemia cirrhosis or fibrosis of liver gallstones, cholelithiasis hemolytic anemia hydrops fetalis jaundice onset, fetus onset, infancy onset, neonatal splenomegaly (large spleen) |