Prolidase deficiency

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DiseasesDB = 29838
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OMIM = 170100
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Prolidase deficiency is a rare autosomal recessive [cite journal |pmid=7187192 |year=1982 |month= |author=Larrèque, M; Charpentier, C; Laidet, B; Lambert, M; Bressieux, Jm; Prigent, F; Canuel, C; Tanzer, J |title=Prolidase and manganese deficiency. Apropos of a case: diagnosis and treatment |volume=109 |issue=8 |pages=667–78 |issn=0151-9638 |journal=Annales de dermatologie et de venereologie |url=http://www.nlm.nih.gov/medlineplus/leginjuriesanddisorders.html |format=Free full text]
inborn error of metabolism classified as a genodermatosis.cite journal |author=Kavala M, Zindanci I, Sudogan S, Turkoglu Z, Sarigul S |title=Ulcus cruris associated with prolidase deficiency |journal=Dermatol Online J. |volume=12 |issue=7 |pages=24 |year=2006 |pmid=17459310]

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.

Diagnosis

Prolidase deficiency is characterized by severe skin ulcers, facial abnormalities, chronic joint dislocations, bacterial infections, and mental retardation. Asymptomatic patients, though rare, have also been recognized. [Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). [http://www.ommbid.com 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 [http://books.mcgraw-hill.com/medical/ommbid/blog/ OMMBID blog] .] . 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. [cite journal |pmid=15309682 |year=2004 |month= |author=Lupi, A; De, Riso, A; Torre, Sd; Rossi, A; Campari, E; Vilarinho, L; Cetta, G; Forlino, A |title=Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship |volume=49 |issue=9 |pages=500–6 |doi=10.1007/s10038-004-0180-1 |journal=Journal of human genetics]

References

External links

* [http://www.orpha.net/data/patho/GB/uk-prolidase.pdf Prolidase deficiency] on OrphaNet