Summary
A 17-year-old girl was shown to have prolidase deficiency on the basis of the presence of large amounts of proline-containing dipeptides in urine and an almost complete absence of prolidase in plasma and erythrocytes. Unlike most earlier cases of this genetic defect our patient did not excrete hydroxyproline-containing dipeptides in her urine.
Similar content being viewed by others
References
Endo, F., Matsuda, I., Ogata, A. and Tanaka, S. Human erythrocyte prolidase and prolidase deficiency.Pediatr. Res. 16 (1982) 227–231
Jackson, S. H., Dennis, A. W. and Greenberg, M. Iminodipeptiduria: a genetic defect in recycling collagen, a method for determining prolidase in erythrocytes.Can. Med. J. 113 (1975) 759–763
Myara, I., Charpentier, C. and Lemonnier, A. Optimal conditions for prolidase assay by proline colorimetric determination: application to iminodipeptiduria.Clin. Chim. Acta 125 (1982) 193–205
Priestman, D. A. and Butterworth, J. Prolidase deficiency: characteristics of human skin fibroblast prolidase using colorimetric and fluorimetric assays.Clin. Chim. Acta 142 (1984) 263–271
Powell, G. F., Rasco, M. A. and Maniscalco, R. M. A prolidase deficiency in man with iminopeptiduria.Metabolism 23 (1974) 505–513
Schofield, J. D., Freeman, I. L. and Jackson, D. S. The isolation, and amino acid and carbohydrate composition, of polymeric collagens prepared from various human tissues.Biochem. J. 124 (1971) 467–473
Scriver, C. R., Smith, R. J. and Phang, J. M. Prolidase deficiency with hyperimidodipeptiduria. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.)The Metabolic Basis of Inherited Diseases, McGraw-Hill, New York, 5th edn, 1983, pp. 375–377
Sheffield, L. J., Schlesinger, P., Faull, K., Halpern, B. J., Schier, G. M., Cotton, R. G. H., Hammond, J. and Danks, D. M. Iminopeptiduria, skin ulcerations and edema in a boy with prolidase deficiency.J. Pediatr. 91 (1977) 578–583
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Wysocki, S.J., Hahnel, R., Mahoney, T. et al. Prolidase deficiency: A patient without hydroxyproline-containing iminodipeptides in urine. J Inherit Metab Dis 11, 161–165 (1988). https://doi.org/10.1007/BF01799866
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01799866