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Genetic and Rare Diseases Information Center (GARD)

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Prolidase deficiency

Other Names for this Disease
  • Hyperimidodipeptiduria
  • Imidodipeptidase deficiency
  • PD
  • Peptidase deficiency
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Tests & Diagnosis

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How is prolidase deficiency diagnosed?

The diagnosis of prolidase deficiency is based on the presence and location of the skin ulcers and the identification of specific proteins in the urine. The confirmation diagnosis requires a blood test to measure the activity of the enzyme prolidase.[1]
Last updated: 3/9/2010

  1. Peter Hechtman. Chapter 82: Prolidase Deficiency. The Online Metabolic & Molecular Bases of Inherited Disease. Accessed 3/8/2010.


  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.