| 2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. | |
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MedLine Citation:
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PMID: 8981317 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. We reviewed the literature for 2-hydroxyglutaric aciduria and found six other patients with the D-isomer and 24 patients with the L-isomer. Although the clinical spectrum of this inborn error of metabolism is variable, the clinical course of the D-form seems to be more severe than this of the L-form. |
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Authors:
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Y Geerts; W O Renier; J Bakkeren; J de Jong |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 143 ISSN: 0022-510X ISO Abbreviation: J. Neurol. Sci. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1997-03-20 Completed Date: 1997-03-20 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 166-9 Citation Subset: IM |
Affiliation:
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Department of Child Neurology, University Hospital of Nijmegen, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Epilepsy
/
diagnosis,
etiology Glutarates / chemistry, urine* Humans Infant Isomerism Male Psychomotor Disorders / diagnosis, etiology Renal Aminoacidurias / complications, diagnosis*, urine |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 2889-31-8/alpha-hydroxyglutarate |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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