pyruvate kinase (PK) deficiency

pyruvate kinase (PK) deficiency
py·ru·vate ki·nase (PK) de·fi·cien·cy (piґroo-vāt kiґnās) an autosomal recessive disorder caused by mutation in the PKLR gene (locus: 1q21), which encodes the liver and erythrocyte isozymes of pyruvate kinase. It is the most common glycolytic enzyme defect in the Embden-Meyerhof pathway and is characterized by chronic hemolytic anemia of widely variable severity.

Medical dictionary. 2011.

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  • Pyruvate kinase — is an enzyme involved in glycolysis. It catalyzes the transfer of a phosphate group from phosphoenolpyruvate (PEP) to ADP, yielding one molecule of pyruvate and one molecule of ATP. ReactionThe reaction with pyruvate kinase: pyruvate kinase PEP > …   Wikipedia

  • pyruvate kinase — n an enzyme that functions in glycolysis by catalyzing esp. the transfer of phosphate from phosphoenolpyruvate to ADP forming pyruvate and ATP * * * py·ru·vate ki·nase (PK) (piґroo vāt kiґnās) [EC 2.7.1.40] an enzyme of the transferase… …   Medical dictionary

  • Pyruvate kinase deficiency — Infobox Disease Name = PAGENAME Caption = Phosphoenolpyruvate DiseasesDB = 11090 ICD10 = ICD10|D|55|2|d|55 ICD9 = ICD9|282.3 ICDO = OMIM = 266200 MedlinePlus = 001197 eMedicineSubj = med eMedicineTopic = 1980 MeshID = Pyruvate kinase deficiency,… …   Wikipedia

  • Deficit en pyruvate kinase — Déficit en pyruvate kinase 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 …   Wikipédia en Français

  • Déficit En Pyruvate Kinase — 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… …   Wikipédia en Français

  • Déficit en pyruvate kinase — 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… …   Wikipédia en Français

  • Pyruvate carboxylase deficiency — Classification and external resources Oxaloacetate is the product of pyruvate carboxylase ICD 10 E …   Wikipedia

  • Pyruvate dehydrogenase complex — (PDC) is a complex of three enzymes that transform pyruvate into acetyl CoA by a process called pyruvate decarboxylation. Acetyl CoA may then be used in the citric acid cycle to carry out cellular respiration, and this complex links the… …   Wikipedia

  • Pyruvate dehydrogenase — Crystallographic structure of pyruvate dehydrogenase (PDH). PH is a six domain dimer with α (blue), α’ (yellow), β (red), and β’ (teal) regions denoted by the different colors. Thiamine pyrophosphate (TPP) is shown in grey ball and stick form,… …   Wikipedia

  • deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of …   Medical dictionary

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