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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. 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.

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  • نقص البيروفات كايناز
  • Pyruvatkinasemangel
  • Pyruvate kinase deficiency
  • Déficit en pyruvate kinase
  • Deficit di piruvato chinasi
  • Niedobór kinazy pirogronianowej
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  • نقص البيروفات كايناز: هو اضطراب وراثي أيضي في الإنزيم بيروفات كايناز مما يؤثر في استقرار خلايا الدم الحمراء . قد تكون وراثة هذا المرض جسمية سائدة؛ و لكن في أغلب الأحيان وراثته جسمية متنحية. نقص البيروفات كايناز هو السبب الثاني الأكثر شيوعاً لفقر الدم الانحلالي التابع لنقص أو عوز في إنزيم، بعد الفوال.
  • Der Pyruvatkinasemangel (PK), genauer Pyruvatkinase-Mangel der Erythrozyten oder Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase ist eine seltene angeborene Störung der Glykolyse mit dem Hauptmerkmal einer hämolytischen Anämie. Die Erkrankung gilt als die häufigste Ursache einer angeborenen, nicht-sphärozytären hämolytischen Anämie. Die Erstbeschreibung stammt aus dem Jahre 1961 durch die US-Amerikaner William N. Valentine und Mitarbeiter.
  • Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. 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.
  • Il deficit di piruvato chinasi è una malattia metabolica ereditaria dell'enzima piruvato chinasi che influenza la sopravvivenza dei globuli rossi. L'ereditarietà è sia autosomica dominante che recessiva; classicamente, e più comunemente, l'ereditarietà è autosomica recessiva. Il deficit di piruvato chinasi è, dopo il deficit di G6PD, la seconda causa più comune di anemia emolitica dovuta alla carenza di un enzima.
  • Niedobór kinazy pirogronianowej – defekt enzymatyczny krwinek czerwonych polegający na braku lub niedoborze kinazy pirogronianowej (PK), ważnego enzymu szlaku glikolizy. W znacznej mierze ma charakter wrodzony, związany z dziedziczeniem. Tylko znikomy odsetek chorych ma nabytą postać zaburzenia.
  • Le déficit en pyruvate kinase est une maladie (orpheline) à transmission autosomale récessive, c'est-à-dire que les patients sont le plus souvent, en l'absence de consanguinité, des hétérozygotes composites (les parents sont hétérozygotes et porteurs sains. Les patients présentent une anémie hémolytique chronique plus ou moins importante et un ictère très visible (peau et yeux jaunes), les urines sont également foncés. L'anémie peut être améliorée par la splénectomie. Ce type d'anémie pourrait conférer une certaine protection contre le Plasmodium falciparum responsable du paludisme.
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  • Pyruvate kinase deficiency
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  • Pyruvate kinase deficiency
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