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Diseases

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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Symptoms

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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

References
  1. PEPD. Genetics Home Reference. March 7, 2010; http://ghr.nlm.nih.gov/gene=pepd. Accessed 3/8/2010.
  2. Prolidase Deficiency. Online Mendelian Inheritance in Man. June 20, 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170100. Accessed 3/16/2010.
  3. Peter Hechtman. Chapter 82: Prolidase Deficiency. The Online Metabolic & Molecular Bases of Inherited Disease. http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_inherited_disease/b/abstract/part8/ch82. Accessed 3/8/2010.


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