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| pyruvate kinase deficiency ： ウィキペディア英語版 |
pyruvate kinase deficiency
Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cellsBoth 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.
==Symptoms==
In regards to symptoms the patients may express signs/symptoms during stress,and acute illness (viral disorders).Among the symptoms of pyruvate kinase deficiency are:
*Anemia
*Cholecystolithiasis
*Icteric sclera
*Splenomegaly
*Leg ulcers
*Jaundice
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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