An enzyme that catalyzes the ATP-dependent hydrolysis of l-5-oxoproline (ATP + l-5-oxoproline → ADP + orthophosphate + l-glutamate); a deficiency of this enzyme will result in 5-oxoprolinuria.
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3 deletion syndrome, 2q37 deletion syndrome, 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency, 3 Methylcrotonyl-CoA carboxylase 1 deficiency, 3 methylglutaconic aciduria type I, 3 methylglutaconic aciduria type IV, 3 methylglutaconic aciduria type V, 3-alpha hydroxyacyl-CoA dehydrogenase deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, 3-Hydroxyisobutyric aciduria, 3-methylglutaconic aciduria type III, 3p deletion syndrome, 4-hydroxyphenylacetic aciduria, 46 XX Gonadal dysgenesis epibulbar dermoid, 46 XX testicular disorder of sex development, 47 XXX syndrome, 47 XYY syndrome, 49 XXXXX syndrome, 5-Nucleotidase syndrome, 5-oxoprolinase deficiency, 5q- syndrome, 6 alpha mercaptopurine sensitivity, 6-pyruvoyl-tetrahydropterin synthase deficiency, 8p23.
Two rare genetic diseases of the [gamma]-glutamyl cycle, glutathione synthetase deficiency and 5-oxoprolinase deficiency, that have been described lead to the accumulation of 5-oxoproline in plasma and urine (3).
Two genetic deficiencies of the [gamma]-glutamyl cycle, glutathione synthetase deficiency and 5-oxoprolinase deficiency (3), lead to very large increases in 5-oxoproline excretion.
Finally, a previous investigation of another subject with acute onset 5-oxoprolinuria yielded normal activities of glutathione synthetase and 5-oxoprolinase (1).
Such rare defects or deficiencies have been described for most of the enzymes involved in the cycle, but those involving glutathione synthetase and 5-oxoprolinase are of particular clinical interest.
An inborn defect in the enzyme 5-oxoprolinase was first described in 1981 in two brothers, ages 11 and 16 years [2].
This case is similar to a previous case of transient 5-oxoprolinuria reported in 1989 [16], where the source of the metabolite accumulation was suggested to be attributable to an acquired deficiency of glutathione synthetase or 5-oxoprolinase activity, gastrointestinal absorption of 5-oxoproline from an unidentified dietary source, or some combination of these factors.
In addition, we further hypothesize that such a disturbance in the [gamma]-glutamyl cycle was a direct result of the action of flucloxacillin, netilmicin, or the combination of both on the activity of 5-oxoprolinase.
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