%260005
ICD+
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| 5-OXOPROLINASE DEFICIENCY | |||||||||
| Alternative titles; symbols | |||||||||
| OXOPROLINURIA DUE TO OXOPROLINASE DEFICIENCY | |||||||||
| Clinical Synopsis | |||||||||
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| Larsson et al. (1981) reported the cases of 2 brothers, aged 16 and 11, who had enterocolitis and urolithiasis and exhibited excessive excretion of 5-oxo-L-proline. They had had recurrent episodes of vomiting, diarrhea, and abdominal pain, starting in infancy. Urinary stones in 1 of the brothers contained calcium oxalate and carbonate. One patient had a plasma 5-oxoproline level of about 0.18 mM. They had normal erythrocyte glutathione levels and did not show acidosis, neurologic symptoms, or hemolysis. The glutathione synthetase activities of erythrocytes, leukocytes, and cultured skin fibroblasts were within normal limits (see 266130), as was also the activity of erythrocyte gamma-glutamylcysteine synthetase (see 606857). The cultured skin fibroblasts of both brothers and the leukocytes of one of them exhibited very low levels of 5-oxoprolinase. The activity in the cells of the parents had a level intermediate between those of the brothers and controls. Rosel et al. (1981) found 5-oxoprolinase deficiency in a woman who was found to excrete large quantities of 5-oxoproline when she was studied in connection with her child who had prolinemia and birth defects. The father and the child had daily urinary 5-oxoproline excretion that was less than 1 mM/day. The mother's plasma 5-oxoproline level was 9 times greater than that in controls. Cultured skin fibroblasts had about 2% of control values of 5-oxoprolinase. Although the urinary excretion of 5-oxoproline and the level of depression of 5-oxoprolinase activity was about the same in all 3 patients, the clinical findings were different. See Meister and Larsson (1989). | |||||||||
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