Pyruvate kinase deficiency
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Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells.[4][5] Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive. Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia, following G6PD deficiency.[6]
Quick Facts Other names, Specialty ...
Pyruvate kinase deficiency | |
---|---|
Other names | Erythrocyte pyruvate kinase deficiency[1] |
Phosphoenolpyruvate | |
Specialty | Hematology |
Symptoms | Anemia, tachycardia[2] |
Causes | Mutation in PKLR gene[3] |
Diagnostic method | Physical exam, CBC[4] |
Treatment | Blood transfusion[4] |
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