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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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Your Question

I have prolidase deficiency and would like to receive as much information as possible as well as contact other sufferers.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is prolidase deficiency?

Prolidase deficiency is a rare disorder that affects multiple systems due to a defect on an enzyme that is related to the production of collagen (a strong protein found in bones, tissues, and skin).[1]
Last updated: 3/16/2010

What are the signs and symptoms of prolidase deficiency?

The signs and symptoms of prolidase deficiency are frequently detectable after birth or early childhood and can vary significantly. One of the main characteristics of prolidase deficiency is the elimination of high amounts of proteins (peptides) in the urine.[1][2] Additionally,the majority of affected individuals present with chronic skin ulcers (mainly on the legs and feet), mild to severe intellectual disability and high susceptibility to infections (especially respiratory infections). [1] Affected individuals also present with facial defects such as small jaw (micrognathia), widely spaced eyes (hypertelorism), high arched palate and protruding eyes (exophthalmos).[1][3][2]
Last updated: 3/18/2010

What causes prolidase deficiency?

Prolidase deficiency is a genetic disorder caused by a mutation of a gene called peptidase D (PEPD). The PEPD gene is located on chromosome 19 and it has the information on how to make the enzyme prolidase, which has a role breaking and recycling proteins, including collagen.[1][4] Collagen is a protein widely distributed in the body and provides structural support (like a skeleton) to internal organs and connective tissues such as skin, bones,tendons, and ligaments.
Last updated: 3/18/2010

Is prolidase deficiency an inherited condition?

Yes, prolidase deficiency is an inherited disorder that is passed from parents to children in an autosomal recessive pattern. This means that both parents must have a copy of the defective gene in order to pass it to their children; frequently the parents do not have symptoms or the condition. See Graphic.
Last updated: 3/18/2010

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.[3]
Last updated: 3/9/2010

How might prolidase deficiency be treated?

There is no specific treatment for prolidase deficiency. Ulcers may be treated with ointment containing L-glycine and L-proline. Also, dietary supplements with amino acids, L-proline and ascorbic acid, as well as transfusion of red blood cells have been used, but results are limited and variable.[3]
Last updated: 3/18/2010

Are there any support groups for prolidase deficiency?

We were unable to find a support group specifically for prolidase deficiency. According to the medical literature review, around 40 cases have been reported. There is an organization based in the United Kingdon called Children Living with Inherited Metabolic Diseases (CLIMB) that lists prolidase as a supported inherited metabolic disease.
Last updated: 7/5/2013