Literature DB >> 874681

Prolidase deficiency: report of a second case with quantitation of the excessively excreted amino acids.

G F Powell, A Kurosky, R M Maniscalco.   

Abstract

The second documented case of prolidase deficiency is presented. Clinical manifestations include chronic otitis media and sinusitis, dermatitis, and splenomegaly. Prolidase is undetectable in the white blood cells of the patient and near or less than the lower range of normal in each parent. The peptide chromatographic pattern of the urine is similar to that of the previously reported patient with prolidase deficiency. The quantity of amino acids excreted in urine per 24 hours is at least three times that of the upper range of normal (of these same amino acids) for the patients age group. More than 80% of the total amino acids excreted are in peptide form. The proline-to-hydroxyproline ratio suggests that the dipeptides are the catabolic products of other proteins in addition to collagen.

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Year:  1977        PMID: 874681     DOI: 10.1016/s0022-3476(77)80820-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  7 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.  Prolidase deficiency breaks tolerance to lupus-associated antigens.

Authors:  Biji T Kurien; Anil D'Sousa; Benjamin F Bruner; Timothy Gross; Judith A James; Ira N Targoff; Jacen S Maier-Moore; Isaac T W Harley; Heng Wang; R Hal Scofield
Journal:  Int J Rheum Dis       Date:  2013-12-14       Impact factor: 2.454

4.  Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiency.

Authors:  P M Royce; D M Danks
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

5.  Screening method for prolidase deficiency.

Authors:  F Endo; I Matsuda
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Oxidative stress in chronic otitis media.

Authors:  Elif Baysal; Nurten Aksoy; Ferit Kara; Seyithan Taysi; Abdullah Taşkın; Hasan Bilinç; Cengiz Cevik; Fatih Celenk; Muzaffer Kanlıkama
Journal:  Eur Arch Otorhinolaryngol       Date:  2012-06-19       Impact factor: 2.503

7.  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

  7 in total

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