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| Prolidase deficiency Classification and external resources |
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| OMIM | 170100 |
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| DiseasesDB | 29838 |
Prolidase deficiency is a rare autosomal recessive[1] inborn error of metabolism classified as a genodermatosis.[2]
Although metabolism of the amino acid proline is affected by the enzyme prolidase, this disorder is not to be confused with hyperprolinemia, which involves different enzymatyic pathways related to proline metabolism.
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Diagnosis
Prolidase deficiency is characterized by severe skin ulcers, facial abnormalities, chronic joint dislocations, bacterial infections, and mental retardation.[2] Asymptomatic patients, though rare, have also been recognized.[3]. Due to this deficiency of the exopeptidase called prolidase, patients may also excrete large amounts of iminodipeptides in the urine, a condition called iminodipeptiduria.
Genetics
Mutations in the PEPD gene on chromosome 19p13.2 have been observed to cause prolidase deficiency.[4]
References
- ^ Larrèque, M; Charpentier, C; Laidet, B; Lambert, M; Bressieux, Jm; Prigent, F; Canuel, C; Tanzer, J (1982). "Prolidase and manganese deficiency. Apropos of a case: diagnosis and treatment" (Free full text). Annales de dermatologie et de venereologie 109 (8): 667–78. ISSN 0151-9638. PMID 7187192.
- ^ a b Kavala M, Zindanci I, Sudogan S, Turkoglu Z, Sarigul S (2006). "Ulcus cruris associated with prolidase deficiency". Dermatol Online J. 12 (7): 24. PMID 17459310.
- ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.
- ^ Lupi, A; De, Riso, A; Torre, Sd; Rossi, A; Campari, E; Vilarinho, L; Cetta, G; Forlino, A (2004). "Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship". Journal of human genetics 49 (9): 500–6. doi:. PMID 15309682.
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