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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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Inheritance

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Is prolidase deficiency an inherited condition?

Yes. Prolidase deficiency is inherited in an autosomal recessive manner.[1][2][3] This means that to be affected, a person must have a mutation in both copies of the PEPD gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition (carriers).[2] When 2 carriers of an autosomal recessive condition have children, each child has a: 
  • 25% (1 in 4) chance to be affected,
  • 50% (1 in 2) chance to be an unaffected carrier like each parent,
  • 25% (1 in 4) chance to be unaffected and not be a carrier.


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.