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

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‐oxoprolinuri...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2006-08, Vol.29 (4), p.587-587
Main Authors: Ruijter, G. J. G., Mourad‐Baars, P. E. C., Ristoff, E., Onkenhout, W., Poorthuis, B. J. H. M.
Format: Article
Language:English
Subjects:
Child
Glutathione Synthase - metabolism
Humans
Male
Pyroglutamate Hydrolase - metabolism
Pyrrolidonecarboxylic Acid - urine
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Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-006-0370-4