Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities

J Inherit Metab Dis. 2006 Aug;29(4):587. doi: 10.1007/s10545-006-0370-4. Epub 2006 Jul 8.

Abstract

5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presented 3 days after birth with acidosis, and metabolic screening revealed massive excretion of 5-oxoproline. Following recovery, growth and psychomotor development were normal, but 5-oxoprolinuria persisted. Primary defects in the gamma-glutamyl cycle were ruled out since glutathione synthase and 5-oxoprolinase activities were normal. All known secondary causes of 5-oxoprolinuria were also excluded, leaving the basis of the permanent 5-oxoprolinuria in this patient unresolved.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Glutathione Synthase / metabolism*
  • Humans
  • Male
  • Pyroglutamate Hydrolase / metabolism*
  • Pyrrolidonecarboxylic Acid / urine*

Substances

  • Pyroglutamate Hydrolase
  • Glutathione Synthase
  • Pyrrolidonecarboxylic Acid