Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities

J Inherit Metab Dis. 2001 Jun;24(3):404-6. doi: 10.1023/a:1010569021839.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bronchopulmonary Dysplasia / complications
  • Creatinine / urine
  • Diseases in Twins*
  • Fatal Outcome
  • Fibroblasts / enzymology
  • Gestational Age
  • Glutathione Synthase / genetics
  • Glutathione Synthase / metabolism*
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Small for Gestational Age
  • Male
  • Pyroglutamate Hydrolase / metabolism*
  • Pyrrolidonecarboxylic Acid / urine*

Substances

  • Creatinine
  • Pyroglutamate Hydrolase
  • Glutathione Synthase
  • Pyrrolidonecarboxylic Acid