Clinical and biochemical characteristics of prolidase deficiency in siblings
Identifieur interne : 007016 ( Istex/Corpus ); précédent : 007015; suivant : 007017Clinical and biochemical characteristics of prolidase deficiency in siblings
Auteurs : David Freij ; Harvey L. Levy ; Gertrud Dudin ; Diya' Mutasim ; Mary Deeb ; Vazken M. Der KaloustianSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1984-11.
Abstract
Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.
Url:
DOI: 10.1002/ajmg.1320190319
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ISTEX:EF83D786BC1595DBF8D8F3780A73424B7DE20FC1Le document en format XML
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Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. 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Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. 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Kennedy, Jr., Memorial Laboratories of the Neurology Service, Harvard Medical School, Boston, Massachusetts<address><country key="US"></country></address></affiliation><affiliation>Massachusetts General Hospital, and the Department of Neurology, Harvard Medical School, Boston, Massachusetts<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Gertrud</forename><surname>Dudin</surname></persName><affiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon<address><country key="LB"></country></address></affiliation><affiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon<address><country key="LB"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Diya'</forename><surname>Mutasim</surname></persName><affiliation>Division of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon<address><country key="LB"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Mary</forename><surname>Deeb</surname></persName><affiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon<address><country key="LB"></country></address></affiliation><affiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon<address><country key="LB"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Vazken M.</forename><surname>Der Kaloustian</surname></persName><affiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon<address><country key="LB"></country></address></affiliation><affiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon<address><country key="LB"></country></address></affiliation></author><idno type="istex">EF83D786BC1595DBF8D8F3780A73424B7DE20FC1</idno><idno type="DOI">10.1002/ajmg.1320190319</idno><idno type="unit">AJMG1320190319</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320190319.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/ajmg.v19:3</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">19</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="561">561</biblScope><biblScope unit="page" to="571">571</biblScope><biblScope unit="page-count">11</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1984-11"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">prolidase deficiency</term><term xml:id="kwd2">imidodipeptidase deficiency</term><term xml:id="kwd3">imidodipeptiduria</term><term xml:id="kwd4">mental retardation</term><term xml:id="kwd5">skin ulcers</term><term xml:id="kwd6">autosomal recessive inheritance</term><term xml:id="kwd7">inborn error of metabolism</term></keywords><classCode scheme="articleCategory">Article</classCode><classCode scheme="tocHeading1">Articles</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/EF83D786BC1595DBF8D8F3780A73424B7DE20FC1/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. J. Med. Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="30"><doi origin="wiley" registered="yes">10.1002/ajmg.v19:3</doi><numberingGroup><numbering type="journalVolume" number="19">19</numbering><numbering type="journalIssue">3</numbering></numberingGroup><coverDate startDate="1984-11">November 1984</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="19" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.1320190319</doi><idGroup><id type="unit" value="AJMG1320190319"></id></idGroup><countGroup><count type="pageTotal" number="11"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="publisher">Copyright © 1984 Wiley‐Liss, Inc., A Wiley Company</copyright><eventGroup><event type="manuscriptReceived" date="1984-03-01"></event><event type="manuscriptRevised" date="1984-05-03"></event><event type="firstOnline" date="2005-06-03"></event><event type="publishedOnlineFinalForm" date="2005-06-03"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.9 mode:FullText" date="2010-06-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">561</numbering><numbering type="pageLast">571</numbering></numberingGroup><correspondenceTo>Department of Pediatrics, The University of Texas Health Science Center at Dallas, Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75235</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1320190319.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="38"></count></countGroup><titleGroup><title type="main" xml:lang="en">Clinical and biochemical characteristics of prolidase deficiency in siblings</title><title type="short" xml:lang="en">Prolidase Deficiency in Siblings</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af3" corresponding="yes"><personName><honorifics>Dr.</honorifics><givenNames>Bishara J.</givenNames><familyName>Freij</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af4 #af5"><personName><givenNames>Harvey L.</givenNames><familyName>Levy</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Gertrud</givenNames><familyName>Dudin</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Diya'</givenNames><familyName>Mutasim</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Mary</givenNames><familyName>Deeb</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Vazken M.</givenNames><familyName>Der Kaloustian</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="LB" type="organization"><unparsedAffiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="LB" type="organization"><unparsedAffiliation>Division of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="LB" type="organization"><unparsedAffiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Joseph P. Kennedy, Jr., Memorial Laboratories of the Neurology Service, Harvard Medical School, Boston, Massachusetts</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Massachusetts General Hospital, and the Department of Neurology, Harvard Medical School, Boston, Massachusetts</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">prolidase deficiency</keyword><keyword xml:id="kwd2">imidodipeptidase deficiency</keyword><keyword xml:id="kwd3">imidodipeptiduria</keyword><keyword xml:id="kwd4">mental retardation</keyword><keyword xml:id="kwd5">skin ulcers</keyword><keyword xml:id="kwd6">autosomal recessive inheritance</keyword><keyword xml:id="kwd7">inborn error of metabolism</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Clinical and biochemical characteristics of prolidase deficiency in siblings</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Prolidase Deficiency in Siblings</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical and biochemical characteristics of prolidase deficiency in siblings</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Freij</namePart><affiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><affiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><affiliation>Department of Pediatrics, The University of Texas Health Science Center at Dallas, Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75235</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Harvey L.</namePart><namePart type="family">Levy</namePart><affiliation>Joseph P. Kennedy, Jr., Memorial Laboratories of the Neurology Service, Harvard Medical School, Boston, Massachusetts</affiliation><affiliation>Massachusetts General Hospital, and the Department of Neurology, Harvard Medical School, Boston, Massachusetts</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gertrud</namePart><namePart type="family">Dudin</namePart><affiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><affiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Diya'</namePart><namePart type="family">Mutasim</namePart><affiliation>Division of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary</namePart><namePart type="family">Deeb</namePart><affiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><affiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vazken M.</namePart><namePart type="family">Der Kaloustian</namePart><affiliation>Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><affiliation>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut, Lebanon</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1984-11</dateIssued><dateCaptured encoding="w3cdtf">1984-03-01</dateCaptured><copyrightDate encoding="w3cdtf">1984</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">4</extent><extent unit="references">38</extent></physicalDescription><abstract lang="en">Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.</abstract><subject lang="en"><genre>keywords</genre><topic>prolidase deficiency</topic><topic>imidodipeptidase deficiency</topic><topic>imidodipeptiduria</topic><topic>mental retardation</topic><topic>skin ulcers</topic><topic>autosomal recessive inheritance</topic><topic>inborn error of metabolism</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Article</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>1984</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>561</start><end>571</end><total>11</total></extent></part></relatedItem><identifier type="istex">EF83D786BC1595DBF8D8F3780A73424B7DE20FC1</identifier><identifier type="DOI">10.1002/ajmg.1320190319</identifier><identifier type="ArticleID">AJMG1320190319</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1984 Wiley‐Liss, Inc., A Wiley Company</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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