Entry |
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Name |
Pyruvate kinase deficiency |
Subgroup |
Red cell pyruvate kinase (PK) deficiency Pyruvate kinase hyperactivity |
Description |
Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been so far reported in the PKLR gene. It has also been found that a specific mutation in the PKLR gene causes hereditary increase of red blood cell ATP.
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Category |
Inherited metabolic disease; Hematologic disease
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Brite |
Human diseases [BR:br08402]
Cardiovascular diseases
Hematologic diseases
H01096 Pyruvate kinase deficiency
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H01096 Pyruvate kinase deficiency
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Pathway |
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Gene |
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Other DBs |
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Reference |
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Authors |
Zanella A, Bianchi P, Fermo E |
Title |
Pyruvate kinase deficiency. |
Journal |
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Reference |
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Authors |
Zanella A, Fermo E, Bianchi P, Valentini G |
Title |
Red cell pyruvate kinase deficiency: molecular and clinical aspects. |
Journal |
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Reference |
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Authors |
Beutler E, Westwood B, van Zwieten R, Roos D |
Title |
G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. |
Journal |
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LinkDB |
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