Deficit in pyruvate kinase
The deficit in Pyruvate kinase is a disease (orphan) with recessive transmission autosomale, i.e. that the patients are generally, in the absence of consanguinity, of the composite hétérozygotes (the parents are hétérozygotes and carrying saints).
The patients present a Anémie haemolytic chronicle more or less important and a very visible Ictère (yellow skin and eyes), the Urine S are also dark.
Approximately 400 patients were described in the years 1970. This deficit is with the deficit in G6PD of class 1 the Enzymopathie met most frequently during chronic haemolytic anemias.
Anemia can be improved by the Splénectomie.
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