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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2010-2-26
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pubmed:abstractText |
We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH) gene, which encodes D-2-hydroxyglutarate dehydrogenase (D-2-HGDH). Enzyme assay of D-2-HGDH confirmed that all patients with mutations had impaired enzyme activity, whereas patients with D-2-HGA whose enzyme activity was normal did not have mutations. Significantly lower D-2-HG concentrations in body fluids were observed in mutation-positive D-2-HGA patients than in mutation-negative patients. These results imply that multiple genetic loci may be associated with hyperexcretion of D-2-HG. Accordingly, we suggest a new classification: D-2-HGA Type I associates with D-2-HGDH deficiency, whereas idiopathic D-2-HGA manifests with normal D-2-HGDH activity and higher D-2-HG levels in body fluids compared with Type I patients. It remains possible that several classifications for idiopathic D-2-HGA patients with diverse genetic loci will be revealed in future studies.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1098-1004
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pubmed:author |
pubmed-author:AbdenurJose EJE,
pubmed-author:BuechnerJochenJ,
pubmed-author:ChristensenErnstE,
pubmed-author:ErramiAbdellatifA,
pubmed-author:GibsonK MichaelKM,
pubmed-author:GissenPaulP,
pubmed-author:GradowskaWandaW,
pubmed-author:HobsonEmmaE,
pubmed-author:IslamLilyL,
pubmed-author:JakobsCornelisC,
pubmed-author:KormanStanley HSH,
pubmed-author:KranendijkMartijnM,
pubmed-author:KurczynskiThaddeusT,
pubmed-author:MarandaBrunoB,
pubmed-author:MeliConcettaC,
pubmed-author:RizzoCristianoC,
pubmed-author:SalomonsGajja SGS,
pubmed-author:SansaricqClaudeC,
pubmed-author:StruysEduard AEA,
pubmed-author:TrefzFriedrich KFK,
pubmed-author:WebsterRachelR,
pubmed-author:WickenhagenWjera VWV,
pubmed-author:de KremerRaquel DodelsonRD
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pubmed:copyrightInfo |
(c) 2009 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
31
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
279-83
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pubmed:meshHeading |
pubmed-meshheading:20020533-Alcohol Oxidoreductases,
pubmed-meshheading:20020533-Algorithms,
pubmed-meshheading:20020533-Body Fluids,
pubmed-meshheading:20020533-DNA Mutational Analysis,
pubmed-meshheading:20020533-Genotype,
pubmed-meshheading:20020533-Glutarates,
pubmed-meshheading:20020533-Homozygote,
pubmed-meshheading:20020533-Humans,
pubmed-meshheading:20020533-Models, Genetic,
pubmed-meshheading:20020533-Multiple Acyl Coenzyme A Dehydrogenase Deficiency,
pubmed-meshheading:20020533-Mutation,
pubmed-meshheading:20020533-Reproducibility of Results,
pubmed-meshheading:20020533-gamma-Aminobutyric Acid
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pubmed:year |
2010
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pubmed:articleTitle |
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
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pubmed:affiliation |
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.
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pubmed:publicationType |
Journal Article
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