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Xu, R. Prolidase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5488 (accessed on 21 September 2026).
Xu R. Prolidase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5488. Accessed September 21, 2026.
Xu, Rita. "Prolidase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5488 (accessed September 21, 2026).
Xu, R. (2020, December 24). Prolidase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5488
Xu, Rita. "Prolidase Deficiency." Encyclopedia. Web. 24 December, 2020.
Prolidase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/prolidase-deficiency

Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease.

genetic conditions

References

  1. Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R,Gershoni-Baruch R, Mandel H. A broad spectrum of developmental delay in a largecohort of prolidase deficiency patients demonstrates marked interfamilial andintrafamilial phenotypic variability. Am J Med Genet B Neuropsychiatr Genet. 2010Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945.
  2. Forlino A, Lupi A, Vaghi P, Icaro Cornaglia A, Calligaro A, Campari E, CettaG. Mutation analysis of five new patients affected by prolidase deficiency: thelack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. Hum Genet. 2002 Oct;111(4-5):314-22.
  3. Luder AS, Mandel H, Khayat M, Gurevich I, Frankel P, Rivlin J, Falik-ZaccaiTC. Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: anewly recognized association. J Pediatr. 2007 Jun;150(6):656-8, 658.e1.
  4. Lupi A, De Riso A, Torre SD, Rossi A, Campari E, Vilarinho L, Cetta G, ForlinoA. Characterization of a new PEPD allele causing prolidase deficiency in twounrelated patients: natural-occurrent mutations as a tool to investigatestructure-function relationship. J Hum Genet. 2004;49(9):500-506. doi:10.1007/s10038-004-0180-1.
  5. Lupi A, Rossi A, Campari E, Pecora F, Lund AM, Elcioglu NH, Gultepe M, DiRocco M, Cetta G, Forlino A. Molecular characterisation of six patients withprolidase deficiency: identification of the first small duplication in theprolidase gene and of a mutation generating symptomatic and asymptomatic outcomeswithin the same family. J Med Genet. 2006 Dec;43(12):e58.
  6. Lupi A, Tenni R, Rossi A, Cetta G, Forlino A. Human prolidase and prolidasedeficiency: an overview on the characterization of the enzyme involved in prolinerecycling and on the effects of its mutations. Amino Acids. 2008Nov;35(4):739-52. doi: 10.1007/s00726-008-0055-4.
  7. Mitsubuchi H, Nakamura K, Matsumoto S, Endo F. Inborn errors of prolinemetabolism. J Nutr. 2008 Oct;138(10):2016S-2020S.
  8. Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC,D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH. A nonsense mutation of PEPD in four Amish children with prolidase deficiency.Am J Med Genet A. 2006 Mar 15;140(6):580-5.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 639
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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