(Q3043149)

English

pyruvate kinase deficiency

congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22

  • pyruvate kinase deficiency of red cells
  • hemolytic anemia due to red cell pyruvate kinase deficiency
  • PK deficiency
  • pyruvate kinase deficiency of erythrocyte
  • Pyruvate kinase deficiency of erythrocytes

Statements

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C99037
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Identifiers

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5C53.00
Pyruvate kinase deficiency
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