Pyruvate kinase is an enzyme that is necessary for the body to make the red blood cells perform properly. The pyruvate kinase test measures the levels of the enzyme pyruvate kinase in blood.
When the amount of this enzyme is in little quantity, the RBCs breaks down faster than usual. This causes fewer RBCs available to vital organs, cells and tissues. This results in a health condition called hemolytic anaemia.
The symptoms for Hemolytic anemia are:
Jaundice
Enlargement of the spleen
Anemia
Pale skin
Fatigue
Pyruvate kinase deficiency is a genetic disorder which is autosomal recessive. This means that each parent carries a gene for this disease. However, children have only 1 in a 4 chance of getting this disease having both parents together.
This test is performed to children born to parents with pyruvate deficiency and also on those who are experiencing symptoms of this deficiency. The diagnosis is confirmed by the data collected from a physical examination, the pyruvate kinase test and other blood tests.
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