Prolidase deficiency

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Prolidase deficiency
OMIM 170100
DiseasesDB 29838

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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.

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

Prolidase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the PEPD gene on chromosome 19p13.2 have been observed to cause prolidase deficiency.[4]


References

  1. 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. 
  2. 2.0 2.1 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. 
  3. 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.
  4. 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. PMID 15309682. doi:10.1007/s10038-004-0180-1. 

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| group5 = Clinical Trials Involving Prolidase deficiency | list5 = Ongoing Trials on Prolidase deficiency at Clinical Trials.govTrial results on Prolidase deficiencyClinical Trials on Prolidase deficiency at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Prolidase deficiency | list6 = US National Guidelines Clearinghouse on Prolidase deficiencyNICE Guidance on Prolidase deficiencyNHS PRODIGY GuidanceFDA on Prolidase deficiencyCDC on Prolidase deficiency


| group7 = Textbook Information on Prolidase deficiency | list7 = Books and Textbook Information on Prolidase deficiency


| group8 = Pharmacology Resources on Prolidase deficiency | list8 = AND (Dose)}} Dosing of Prolidase deficiencyAND (drug interactions)}} Drug interactions with Prolidase deficiencyAND (side effects)}} Side effects of Prolidase deficiencyAND (Allergy)}} Allergic reactions to Prolidase deficiencyAND (overdose)}} Overdose information on Prolidase deficiencyAND (carcinogenicity)}} Carcinogenicity information on Prolidase deficiencyAND (pregnancy)}} Prolidase deficiency in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Prolidase deficiency


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Prolidase deficiency | list9 = AND (pharmacogenomics)}} Genetics of Prolidase deficiencyAND (pharmacogenomics)}} Pharmacogenomics of Prolidase deficiencyAND (proteomics)}} Proteomics of Prolidase deficiency


| group10 = Newstories on Prolidase deficiency | list10 = Prolidase deficiency in the newsBe alerted to news on Prolidase deficiencyNews trends on Prolidase deficiency</small>


| group11 = Commentary on Prolidase deficiency | list11 = Blogs on Prolidase deficiency

| group12 = Patient Resources on Prolidase deficiency | list12 = Patient resources on Prolidase deficiencyDiscussion groups on Prolidase deficiencyPatient Handouts on Prolidase deficiencyDirections to Hospitals Treating Prolidase deficiencyRisk calculators and risk factors for Prolidase deficiency


| group13 = Healthcare Provider Resources on Prolidase deficiency | list13 = Symptoms of Prolidase deficiencyCauses & Risk Factors for Prolidase deficiencyDiagnostic studies for Prolidase deficiencyTreatment of Prolidase deficiency

| group14 = Continuing Medical Education (CME) Programs on Prolidase deficiency | list14 = CME Programs on Prolidase deficiency

| group15 = International Resources on Prolidase deficiency | list15 = Prolidase deficiency en EspanolProlidase deficiency en Francais

| group16 = Business Resources on Prolidase deficiency | list16 = Prolidase deficiency in the MarketplacePatents on Prolidase deficiency

| group17 = Informatics Resources on Prolidase deficiency | list17 = List of terms related to Prolidase deficiency


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