Other Names for this Disease
- Imidodipeptidase deficiency
- Peptidase deficiency
intellectual disability, enlargement of the liver (hepatomegaly) with elevated liver enzymes, and enlargement of the spleen (splenomegaly). Symptoms typically present during infancy and vary greatly among affected individuals. The condition is caused by mutations in the PEPD gene. It is inherited in an autosomal recessive pattern. Treatment for prolidase deficiency is symptomatic and supportive and often requires the expertise of a multidisciplinary team.Prolidase deficiency is a rare metabolic condition characterized by skin lesions, recurrent infections, unusual facial features, variable
Last updated: 3/25/2016
- Ferreira C, Wang H. Prolidase Deficiency. GeneReviews. June 25, 2015; http://www.ncbi.nlm.nih.gov/books/NBK299584/.
- Prolidase deficiency. Genetics Home Reference (GHR). February 2012; https://ghr.nlm.nih.gov/condition/prolidase-deficiency.
- Jaeken J. Prolidase deficiency. Orphanet. July 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742.
- Genetics Home Reference (GHR) contains information on Prolidase deficiency. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Prolidase deficiency. Click on the link to view a sample search on this topic.