Literature DB >> 7316526

Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.

A Ogata, S Tanaka, T Tomoda, E Murayama, F Endo, I Kikuchi.   

Abstract

Three patients had prolidase deficiencies. The family pedigree of these three patients suggests that this rare disorder is inherited through an autosomal recessive gene. this genodermatosis is characterized by a number of signs and symptoms referable to the skin, CNS, teeth, ears, nose, throat, eyes, bones, and joints. Among the skin changes, recalcitrant leg ulcers are the most characteristic. At this time, there is no established method of treatment of this rare disorder, but the use of dapsone was helpful in the treatment of one of our patients.

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Year:  1981        PMID: 7316526

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN: 0003-987X


  10 in total

1.  Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.

Authors:  F Endo; A Tanoue; A Kitano; J Arata; D M Danks; C M Lapière; Y Sei; S K Wadman; I Matsuda
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

2.  An autopsy case of prolidase deficiency.

Authors:  M Sekiya; Y Ohnishi; K Kimura
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985

3.  Immunochemical analysis of prolidase deficiency and molecular cloning of cDNA for prolidase of human liver.

Authors:  F Endo; A Hata; Y Indo; K Motohara; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  A proton n.m.r. study of iminodipeptide transport and hydrolysis in the human erythrocyte. Possible physiological roles for the coupled system.

Authors:  G F King; P W Kuchel
Journal:  Biochem J       Date:  1984-06-01       Impact factor: 3.857

5.  Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.

Authors:  A Tanoue; F Endo; I Akaboshi; T Oono; J Arata; I Matsuda
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

6.  An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease.

Authors:  Jeffrey J Kelly; Alexandra F Freeman; Heng Wang; Edward W Cowen; Heidi H Kong
Journal:  J Am Acad Dermatol       Date:  2010-06       Impact factor: 11.527

7.  Substrate specificity of manganese-activated prolidase in control and prolidase-deficient cultured skin fibroblasts.

Authors:  J Butterworth; D Priestman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 8.  Clinical Genetics of Prolidase Deficiency: An Updated Review.

Authors:  Marta Spodenkiewicz; Michel Spodenkiewicz; Maureen Cleary; Marie Massier; Giorgos Fitsialos; Vincent Cottin; Guillaume Jouret; Céline Poirsier; Martine Doco-Fenzy; Anne-Sophie Lèbre
Journal:  Biology (Basel)       Date:  2020-05-21

Review 9.  Proline metabolism and transport in retinal health and disease.

Authors:  Jianhai Du; Siyan Zhu; Rayne R Lim; Jennifer R Chao
Journal:  Amino Acids       Date:  2021-04-19       Impact factor: 3.520

10.  Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

Authors:  Francis Rossignol; Marvid S Duarte Moreno; Carlos R Ferreira; Manuel Schiff; Jean-François Benoist; Manfred Boehm; Emmanuelle Bourrat; Aline Cano; Brigitte Chabrol; Claudine Cosson; José Luís Dapena Díaz; Arthur D'Harlingue; David Dimmock; Alexandra F Freeman; María Tallón García; Cheryl Garganta; Tobias Goerge; Sara S Halbach; Jan de Laffolie; Christina T Lam; Ludovic Martin; Esmeralda Martins; Andrea Meinhardt; Isabelle Melki; Amanda K Ombrello; Noémie Pérez; Dulce Quelhas; Anna Scott; Anne M Slavotinek; Ana Rita Soares; Sarah L Stein; Kira Süßmuth; Jenny Thies
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822

  10 in total

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