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Causes of 5-oxoprolinuria beside glutathione synthetase deficiency and 5-oxoprolinase deficiency. |
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| Etiology |
Possible mechanism |
Ref. |
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| Diet |
Certain infant formulas and tomato juice may contain proteins modified by preparation that have increased 5-oxoproline content |
[52] |
| Severe burns Stevens-Johnson syndrome |
Increased metabolism of collagen, fibrinogen or other proteins that contain substantial amounts of 5-oxoproline |
[53] |
| Other inborn errors of metabolism |
Inborn errors of metabolism not involving the gamma-glutamyl cycle, e.g. X-linked ornithine trancarbamylase deficiency, urea cycle defects, tyrosinemia. In critical organs (e.g. liver, kidney), lack of ATP, which is needed for conversion of 5-oxoproline into glutamate, may lead to 5-oxoprolinuria |
[29] [9] |
| Homocystinuria |
Patients with homocystinuria may have excessive formation of 5-oxoproline |
[54] |
| Drug metabolism |
Paracetamol, vigabatrin and antibiotics (flucloxacillin, netimicin) probably interact with the gamma-glutamyl cycle |
[55-57] |
| Prematurity |
Transient 5-oxoprolinuria has been observed in very preterm infants. The cause is unknown |
[58] [29, 59] |
| Malnutrition, pregnancy |
Limited availability of glycine |
[60] |
| Nephropatic cystinosis |
Nephropatic cystinosis patients: may have 5-oxoprolinuria probably because of decreased availability of free cysteine, resulting in a secondary impairment of the γ-glutamyl cycle. Cysteamine therapy normalizes the 5-oxoprolinuria |
[61] |
Ristoff and Larsson Orphanet Journal of Rare Diseases 2007 2:16 doi:10.1186/1750-1172-2-16 |
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