Erythrocyte enzyme disorders in children

Pediatr Clin North Am. 1980 May;27(2):449-62. doi: 10.1016/s0031-3955(16)33861-5.

Abstract

Erythrocyte metabolic abnormalities should be considered as a possible cause of hemolysis when there is no evidence of an immune-mediated hemolytic anemia, no consumptive red blood cell disorder, no morophologic or laboratory data to suggest a problem of the red cell membrane, and no evidence of a quantitative or qualitative defect in hemoglobin synthesis. Glucose-6-phosphate dehydrogenase deficiency is clearly the most common enzyme deficiency causing clinical problems.

Publication types

  • Review

MeSH terms

  • 5'-Nucleotidase
  • Adenosine Deaminase / deficiency
  • Adenosine Triphosphate / biosynthesis
  • Anemia, Hemolytic, Congenital / enzymology
  • Anemia, Hemolytic, Congenital / physiopathology
  • Child
  • Erythrocyte Membrane / metabolism
  • Erythrocytes / metabolism
  • Erythrocytes, Abnormal / enzymology*
  • Glucosephosphate Dehydrogenase Deficiency / physiopathology
  • Glutathione / metabolism
  • Glutathione Peroxidase / deficiency
  • Glutathione Reductase / deficiency
  • Glutathione Synthase / deficiency
  • Glycolysis
  • Hemolysis
  • Hexosephosphates / metabolism
  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / blood*
  • Nucleotidases / deficiency
  • Pyrimidine Nucleotides / deficiency
  • Pyruvate Kinase / deficiency

Substances

  • Hexosephosphates
  • Pyrimidine Nucleotides
  • Adenosine Triphosphate
  • Glutathione Peroxidase
  • Glutathione Reductase
  • Pyruvate Kinase
  • Nucleotidases
  • 5'-Nucleotidase
  • Adenosine Deaminase
  • Glutathione Synthase
  • Glutathione