Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
Identifieur interne : 000288 ( Istex/Corpus ); précédent : 000287; suivant : 000289Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
Auteurs : Kyllerman ; O. H. Skjeldal ; M. Lundberg ; I. Holme ; E. Jellum ; U. Von Döbeln ; A. Fossen ; G. CarlssonSource :
- Movement Disorders [ 0885-3185 ] ; 1994.
English descriptors
Abstract
Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.
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DOI: 10.1002/mds.870090105
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ISTEX:899195A95CFBB8B021B5C469319DD2A29B1A9B18Le document en format XML
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Carlsson</name><affiliation><mods:affiliation>Bräcke Östergård Regional Child Habilitation Center, Göteborg, Sweden</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1994">1994</date><biblScope unit="vol">9</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="22">22</biblScope><biblScope unit="page" to="30">30</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">899195A95CFBB8B021B5C469319DD2A29B1A9B18</idno><idno type="DOI">10.1002/mds.870090105</idno><idno type="ArticleID">MDS870090105</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dyskinesia</term><term>Dystonia</term><term>Extrapyramidal disorder</term><term>Glutaric aciduria type I</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Dr. Kyllerman</name><affiliations><json:string>Department of Pediatrics II, University of Gothenburg, Göteborg, Sweden</json:string></affiliations></json:item><json:item><name>O. H. Skjeldal</name><affiliations><json:string>Department of Pediatrics, Oslo University, Oslo, Norway</json:string></affiliations></json:item><json:item><name>M. Lundberg</name><affiliations><json:string>Department of Pediatrics, Huddinge University Hospital, Huddinge, Sweden</json:string></affiliations></json:item><json:item><name>I. Holme</name><affiliations><json:string>Department of Clinical Chemistry, Sahlgrenska Hospital, University of Gothenburg, Göteborg, Sweden</json:string></affiliations></json:item><json:item><name>E. Jellum</name><affiliations><json:string>the Institute of Clinical Biochemistry Oslo University, Oslo, Norway</json:string></affiliations></json:item><json:item><name>U. von Döbeln</name><affiliations><json:string>Department of Clinical Chemistry, Huddinge University Hospital, Huddinge, Sweden</json:string></affiliations></json:item><json:item><name>A. Fossen</name><affiliations><json:string>Department of Pediatrics, Oslo University, Oslo, Norway</json:string></affiliations></json:item><json:item><name>G. Carlsson</name><affiliations><json:string>Bräcke Östergård Regional Child Habilitation Center, Göteborg, Sweden</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Glutaric aciduria type I</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Dyskinesia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Extrapyramidal disorder</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. 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Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1994"></date><biblScope unit="vol">9</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="22">22</biblScope><biblScope unit="page" to="30">30</biblScope></imprint></monogr><idno type="istex">899195A95CFBB8B021B5C469319DD2A29B1A9B18</idno><idno type="DOI">10.1002/mds.870090105</idno><idno type="ArticleID">MDS870090105</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1994</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Glutaric aciduria type I</term></item><item><term>Dystonia</term></item><item><term>Dyskinesia</term></item><item><term>Extrapyramidal disorder</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1994">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/899195A95CFBB8B021B5C469319DD2A29B1A9B18/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>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="tocForm">Movement Disorders</title><title type="short">Mov. 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Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>DYSTONIA AND DYSKINESIA IN GLUTARIC ACIDURIA</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Kyllerman</namePart><affiliation>Department of Pediatrics II, University of Gothenburg, Göteborg, Sweden</affiliation><description>Correspondence: Department of Pediatrics II, Östra Sjukhuset, S‐416 85 Göteborg, Sweden</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">O. H.</namePart><namePart type="family">Skjeldal</namePart><affiliation>Department of Pediatrics, Oslo University, Oslo, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Lundberg</namePart><affiliation>Department of Pediatrics, Huddinge University Hospital, Huddinge, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">I.</namePart><namePart type="family">Holme</namePart><affiliation>Department of Clinical Chemistry, Sahlgrenska Hospital, University of Gothenburg, Göteborg, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E.</namePart><namePart type="family">Jellum</namePart><affiliation>the Institute of Clinical Biochemistry Oslo University, Oslo, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">U.</namePart><namePart type="family">von Döbeln</namePart><affiliation>Department of Clinical Chemistry, Huddinge University Hospital, Huddinge, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Fossen</namePart><affiliation>Department of Pediatrics, Oslo University, Oslo, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Carlsson</namePart><affiliation>Bräcke Östergård Regional Child Habilitation Center, Göteborg, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">1994</dateIssued><copyrightDate encoding="w3cdtf">1994</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">3</extent><extent unit="references">29</extent></physicalDescription><abstract lang="en">Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.</abstract><subject lang="en"><genre>Keywords</genre><topic>Glutaric aciduria type I</topic><topic>Dystonia</topic><topic>Dyskinesia</topic><topic>Extrapyramidal disorder</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>1994</date><detail type="volume"><caption>vol.</caption><number>9</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>22</start><end>30</end><total>9</total></extent></part></relatedItem><identifier type="istex">899195A95CFBB8B021B5C469319DD2A29B1A9B18</identifier><identifier type="DOI">10.1002/mds.870090105</identifier><identifier type="ArticleID">MDS870090105</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1994 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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