5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis

J Pediatr. 1991 Jan;118(1):92-5. doi: 10.1016/s0022-3476(05)81855-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis / etiology*
  • Child
  • Chronic Disease
  • Female
  • Glutathione Synthase / deficiency*
  • Humans
  • Intellectual Disability / etiology*
  • Metabolism, Inborn Errors / complications*
  • Neurocognitive Disorders / etiology*
  • Pyrrolidonecarboxylic Acid / urine*

Substances

  • Glutathione Synthase
  • Pyrrolidonecarboxylic Acid