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Prolidase.
Namiduru ES. Namiduru ES. Bratisl Lek Listy. 2016;117(8):480-5. doi: 10.4149/bll_2016_093. Bratisl Lek Listy. 2016. PMID: 27546702
Rare diseases that mimic Systemic Lupus Erythematosus (Lupus mimickers).
Chasset F, Richez C, Martin T, Belot A, Korganow AS, Arnaud L. Chasset F, et al. Joint Bone Spine. 2019 Mar;86(2):165-171. doi: 10.1016/j.jbspin.2018.10.007. Epub 2018 Oct 26. Joint Bone Spine. 2019. PMID: 30837156 Review.
Some of these "SLE mimickers" are very common, such as rosacea which can be mistaken for the butterfly rash, while others such as Kikuchi disease, type-1 interferonopathies, Castleman's disease, prolidase deficiency, angioimmunoblastic T-cell lymphoma, Evans' syndro …
Some of these "SLE mimickers" are very common, such as rosacea which can be mistaken for the butterfly rash, while others such as Kikuchi di …
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, Chabrol B, Cosson C, Díaz JLD, D'Harlingue A, Dimmock D, Freeman AF, García MT, Garganta C, Goerge T, Halbach SS, de Laffolie J, Lam CT, Martin L, Martins E, Meinhardt A, Melki I, Ombrello AK, Pérez N, Quelhas D, Scott A, Slavotinek AM, Soares AR, Stein SL, Süßmuth K, Thies J, Ferreira CR, Schiff M. Rossignol F, et al. Genet Med. 2021 Sep;23(9):1604-1615. doi: 10.1038/s41436-021-01200-2. Epub 2021 May 26. Genet Med. 2021. PMID: 34040193 Free PMC article.
PURPOSE: Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. ...Ulcers were present initially in only 30% of cases, with a median age of onset at 12 years old …
PURPOSE: Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, deve …
Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis.
Besio R, Monzani E, Gioia R, Nicolis S, Rossi A, Casella L, Forlino A. Besio R, et al. Clin Chim Acta. 2011 Sep 18;412(19-20):1814-20. doi: 10.1016/j.cca.2011.06.011. Epub 2011 Jun 15. Clin Chim Acta. 2011. PMID: 21699887
BACKGROUND: Prolidase is a metallo-exopeptidase hydrolyzing X-Pro and X-Hyp dipeptides. Its absence or reduced level is typical in prolidase deficiency (PD) patients, and altered prolidase activity was reported in various diseases. ...
BACKGROUND: Prolidase is a metallo-exopeptidase hydrolyzing X-Pro and X-Hyp dipeptides. Its absence or reduced level is typical in prolid …
Prolidase deficiency and the biochemical assays used in its diagnosis.
Kurien BT, Patel NC, Porter AC, D'Souza A, Miller D, Matsumoto H, Wang H, Scofield RH. Kurien BT, et al. Anal Biochem. 2006 Feb 15;349(2):165-75. doi: 10.1016/j.ab.2005.10.018. Epub 2005 Oct 27. Anal Biochem. 2006. PMID: 16298326 Review. No abstract available.
Leg ulcers secondary to prolidase deficiency.
Trent JT, Kirsner RS. Trent JT, et al. Adv Skin Wound Care. 2004 Nov-Dec;17(9):468-72. doi: 10.1097/00129334-200411000-00011. Adv Skin Wound Care. 2004. PMID: 15632738 Review. No abstract available.
A case of prolidase deficiency in a male patient.
Haller CN, George-Abraham JK, Peterson RG, Diaz LZ. Haller CN, et al. Pediatr Dermatol. 2022 Jan;39(1):94-98. doi: 10.1111/pde.14890. Epub 2021 Dec 9. Pediatr Dermatol. 2022. PMID: 34888915
Prolidase deficiency is an extremely rare, autosomal recessive disorder resulting in defective collagen formation. We report a case of prolidase deficiency in a male child, highlighting the dermatologic features. ...
Prolidase deficiency is an extremely rare, autosomal recessive disorder resulting in defective collagen formation. We report a …
Human erythrocyte prolidase and prolidase deficiency.
Endo F, Matsuda I, Ogata A, Tanaka S. Endo F, et al. Pediatr Res. 1982 Mar;16(3):227-31. doi: 10.1203/00006450-198203000-00013. Pediatr Res. 1982. PMID: 7063276
Biochemical studies on human prolidase (EC 3.4.13.9) and prolidase deficiency are described. The urine sample from a 32-year-old female with prolidase deficiency was examined. ...The relative substrate specificity of the enzyme offers a reasonable expl …
Biochemical studies on human prolidase (EC 3.4.13.9) and prolidase deficiency are described. The urine sample from a 32-year-o …
Pulmonary manifestations of prolidase deficiency.
Nir V, Ilivitky A, Hakim F, Yoseph RB, Gur M, Mandel H, Bentur L. Nir V, et al. Pediatr Pulmonol. 2016 Nov;51(11):1229-1233. doi: 10.1002/ppul.23435. Epub 2016 May 1. Pediatr Pulmonol. 2016. PMID: 27132891
BACKGROUND: Prolidase deficiency is a rare autosomal recessive disease, in which pulmonary manifestations have been sporadically reported. ...The differential diagnosis of bilateral cystic changes should include prolidase deficiency, and pulmonary eval …
BACKGROUND: Prolidase deficiency is a rare autosomal recessive disease, in which pulmonary manifestations have been sporadical …
Prolidase deficiency: A novel PEPD missense variant in exon 2.
Ido F, Tessier S, Yoder N, Ramzy J, Longo S. Ido F, et al. Am J Med Genet A. 2023 May;191(5):1388-1394. doi: 10.1002/ajmg.a.63137. Epub 2023 Feb 9. Am J Med Genet A. 2023. PMID: 36757671
Prolidase deficiency is an autosomal recessive disease that causes impaired collagen degradation. ...Additional diagnostic confirmation may be provided by urine amino acid quantification or reduced in vitro prolidase activity. We present a case of prolidase …
Prolidase deficiency is an autosomal recessive disease that causes impaired collagen degradation. ...Additional diagnostic con …
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