Abstract | UNLABELLED: In patients with defects in the synthesis, breakdown and metabolism of glutathione (GSH), like glutathione synthetase deficiency (GSD) and 5-oxoprolinase deficiency, urinary excretion of 5-oxoproline, an intermediate of the gamma-glutamyl cycle, is increased. We identified 20 patients with significantly elevated urinary excretion of 5-oxoproline (> or =150 mmol/mol creatinine) during 5 years of selective screening for organic acidurias. In 6 of them, 5-oxoprolinuria was a constant finding including three patients with GSD and one with 5-oxoprolinase deficiency. One patient with constant 5-oxoprolinuria had GM2 gangliosidosis and one was clinically unaffected. In 14 patients, 5-oxoprolinuria was a transient abnormality and most often associated with an inborn error of metabolism outside the gamma-glutamyl cycle. In 9 of them 5-oxoprolinuria was associated with a neonatal urea cycle defect, with tyrosinaemia type I or occurred during metabolic decompensation in propionic acidaemia or methylmalonic acidaemia. Additionally, transient 5-oxoprolinuria was associated with homocystinuria, Stevens-Johnson syndrome, paracetamol intoxication, vigabatrin medication or extreme prematurity. CONCLUSION:
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Authors | E Mayatepek |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 158
Issue 3
Pg. 221-5
(Mar 1999)
ISSN: 0340-6199 [Print] Germany |
PMID | 10094443
(Publication Type: Journal Article)
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Chemical References |
- Pyroglutamate Hydrolase
- Glutathione Synthase
- Glutathione
- Pyrrolidonecarboxylic Acid
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Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Glutathione
(metabolism)
- Glutathione Synthase
(deficiency)
- Humans
- Infant
- Metabolism, Inborn Errors
(urine)
- Pyroglutamate Hydrolase
(deficiency)
- Pyrrolidonecarboxylic Acid
(urine)
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