Clinical and biochemical characteristics of prolidase deficiency in siblings

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dc.contributor.author Deeb, Mary
dc.contributor.author Freij, Bishara J.
dc.contributor.author Levy, Harvey L.
dc.contributor.author Dudin, Gertrud
dc.contributor.author Mutasim, Diya'
dc.contributor.author Der Kaloustian, Vazken M.
dc.date.accessioned 2016-11-18T12:27:14Z
dc.date.available 2016-11-18T12:27:14Z
dc.date.copyright 1984 en_US
dc.date.issued 2016-11-18
dc.identifier.issn 0148-7299 en_US
dc.identifier.uri http://hdl.handle.net/10725/4827
dc.description.abstract Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed. en_US
dc.language.iso en en_US
dc.title Clinical and biochemical characteristics of prolidase deficiency in siblings en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 200900035 en_US
dc.author.department N/A en_US
dc.description.embargo N/A en_US
dc.relation.journal American Journal of Medical Genetics en_US
dc.journal.volume 19 en_US
dc.journal.issue 3 en_US
dc.article.pages 561-571 en_US
dc.keywords Prolidase deficiency en_US
dc.keywords Imidodipeptidase deficiency en_US
dc.keywords Imidodipeptiduria en_US
dc.keywords Mental retarda- tion en_US
dc.keywords Skin ulcers en_US
dc.keywords Autosomal recessive inheritance en_US
dc.keywords Inborn error of metabolism en_US
dc.identifier.doi http://dx.doi.org/10.1002/ajmg.1320190319 en_US
dc.identifier.ctation Freij, B. J., Levy, H. L., Dudin, G., Mutasim, D., Deeb, M., & Der Kaloustian, V. M. (1984). Clinical and biochemical characteristics of prolidase deficiency in siblings. American journal of medical genetics, 19(3), 561-571. en_US
dc.author.email mary.deeb@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320190319/abstract en_US
dc.author.affiliation Lebanese American University en_US

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