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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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Cause

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What causes prolidase deficiency?

Prolidase deficiency is caused by mutations in the PEPD gene.[1][2][3] This gene provides instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are molecules composed of two protein building blocks (amino acids). More specifically, prolidase divides dipeptides containing the amino acids proline or hydroxyproline. By freeing these amino acids, prolidase helps make them available for use in producing proteins that the body needs.[2]

Prolidase is also involved in the final steps of the breakdown of some proteins obtained through the diet and proteins that are no longer needed in the body. Prolidase is particularly important in the breakdown of collagens, a family of proteins that are rich in proline and hydroxyproline. Collagens are an important part of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. The extracellular matrix strengthens and supports connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Collagen breakdown occurs during the maintenance (remodeling) of the extracellular matrix.[2]

PEPD gene mutations that cause prolidase deficiency result in the loss of prolidase enzyme activity. It is not well understood how the absence of prolidase activity causes the various signs and symptoms of prolidase deficiency.[2]
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/.
  2. Prolidase deficiency. Genetics Home Reference (GHR). February 2012; https://ghr.nlm.nih.gov/condition/prolidase-deficiency.
  3. Jaeken J. Prolidase deficiency. Orphanet. July 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742.


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.