Summary
5-Oxoprolinuria is primarily associated with inborn errors of the γ-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 γ-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.
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Communicating editor: Ertan Mayatepek
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Ruijter, G.J.G., Mourad-Baars, P.E.C., Ristoff, E. et al. Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities. J Inherit Metab Dis 29, 587 (2006). https://doi.org/10.1007/s10545-006-0370-4
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DOI: https://doi.org/10.1007/s10545-006-0370-4