Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency

J Inherit Metab Dis. 2005;28(6):1153-4. doi: 10.1007/s10545-005-0156-0.

Abstract

We report a 3-year-old boy with glutathione synthetase deficiency, who in the newborn period developed severe persistent haemolytic anaemia. Treatment with erythropoietin was introduced with good clinical and haematological response.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic / complications
  • Anemia, Hemolytic / diagnosis
  • Child, Preschool
  • Erythrocytes / metabolism
  • Erythropoietin / therapeutic use*
  • Fibroblasts / metabolism
  • Gas Chromatography-Mass Spectrometry
  • Glutathione Synthase / deficiency*
  • Heterozygote
  • Humans
  • Male
  • Mass Spectrometry
  • Metabolism, Inborn Errors / drug therapy*
  • Oxidants / metabolism
  • Pyrrolidonecarboxylic Acid / analysis

Substances

  • Oxidants
  • Erythropoietin
  • Glutathione Synthase
  • Pyrrolidonecarboxylic Acid