5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

J Inherit Metab Dis. 1991;14(3):341-4. doi: 10.1007/BF01811698.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Female
  • Fibroblasts / metabolism
  • Gas Chromatography-Mass Spectrometry
  • Glutathione / metabolism
  • Glutathione Synthase / deficiency*
  • Humans
  • Pregnancy
  • Pyrrolidonecarboxylic Acid / urine*

Substances

  • Glutathione Synthase
  • Glutathione
  • Pyrrolidonecarboxylic Acid