Prolidase deficiency

Prolidase deficiency
OMIM	170100
DiseasesDB	29838

WikiDoc Resources for Prolidase deficiency
Articles
Most recent articles on Prolidase deficiency Most cited articles on Prolidase deficiency Review articles on Prolidase deficiency Articles on Prolidase deficiency in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Prolidase deficiency Images of Prolidase deficiency Photos of Prolidase deficiency Podcasts & MP3s on Prolidase deficiency Videos on Prolidase deficiency
Evidence Based Medicine
Cochrane Collaboration on Prolidase deficiency Bandolier on Prolidase deficiency TRIP on Prolidase deficiency
Clinical Trials
Ongoing Trials on Prolidase deficiency at Clinical Trials.gov Trial results on Prolidase deficiency Clinical Trials on Prolidase deficiency at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Prolidase deficiency NICE Guidance on Prolidase deficiency NHS PRODIGY Guidance FDA on Prolidase deficiency CDC on Prolidase deficiency
Books
Books on Prolidase deficiency
News
Prolidase deficiency in the news Be alerted to news on Prolidase deficiency News trends on Prolidase deficiency
Commentary
Blogs on Prolidase deficiency
Definitions
Definitions of Prolidase deficiency
Patient Resources / Community
Patient resources on Prolidase deficiency Discussion groups on Prolidase deficiency Patient Handouts on Prolidase deficiency Directions to Hospitals Treating Prolidase deficiency Risk calculators and risk factors for Prolidase deficiency
Healthcare Provider Resources
Symptoms of Prolidase deficiency Causes & Risk Factors for Prolidase deficiency Diagnostic studies for Prolidase deficiency Treatment of Prolidase deficiency
Continuing Medical Education (CME)
CME Programs on Prolidase deficiency
International
Prolidase deficiency en Espanol Prolidase deficiency en Francais
Business
Prolidase deficiency in the Marketplace Patents on Prolidase deficiency
Experimental / Informatics
List of terms related to Prolidase deficiency

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Prolidase deficiency is a rare autosomal recessive inborn error of metabolism classified as a genodermatosis.

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.. 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.

External links

• Prolidase deficiency on OrphaNet