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Diseases

Genetic and Rare Diseases Information Center (GARD)

Prolidase deficiency


Other Names for this Disease
  • Hyperimidodipeptiduria
  • Imidodipeptidase deficiency
  • Peptidase deficiency
  • PD
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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 of characteristic clinical symptoms, high levels of imidodipeptides in the urine, and detection of either mutations in the PEPD gene or reduced levels of prolidase enzyme activity.[1]
Last updated: 3/25/2016

References
  1. Ferreira C, Wang H. Prolidase Deficiency. GeneReviews. June 25, 2015; http://www.ncbi.nlm.nih.gov/books/NBK299584/.


Testing

  • 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.
Other Names for this Disease
  • Hyperimidodipeptiduria
  • Imidodipeptidase deficiency
  • Peptidase deficiency
  • PD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.