2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature
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 inb...
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| Veröffentlicht in: | Journal of the neurological sciences 1996-11, Vol.143 (1), p.166-169 |
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| container_end_page | 169 |
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| container_issue | 1 |
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| container_title | Journal of the neurological sciences |
| container_volume | 143 |
| creator | Geerts, Y Renier, W.O Bakkeren, J de Jong, J |
| description | 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. |
| doi_str_mv | 10.1016/S0022-510X(96)00179-7 |
| format | Article |
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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.</description><identifier>ISSN: 0022-510X</identifier><identifier>EISSN: 1878-5883</identifier><identifier>DOI: 10.1016/S0022-510X(96)00179-7</identifier><identifier>PMID: 8981317</identifier><identifier>CODEN: JNSCAG</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>Aminoacid disorders ; Biological and medical sciences ; Early infantile epilepsy ; Epilepsy - diagnosis ; Epilepsy - etiology ; Errors of metabolism ; Glutarates - chemistry ; Glutarates - urine ; Humans ; Hydroxyglutaric aciduria ; Inborn error of metabolism ; Infant ; Isomerism ; Male ; Medical sciences ; Metabolic diseases ; Psychomotor delay ; Psychomotor Disorders - diagnosis ; Psychomotor Disorders - etiology ; Renal Aminoacidurias - complications ; Renal Aminoacidurias - diagnosis ; Renal Aminoacidurias - urine</subject><ispartof>Journal of the neurological sciences, 1996-11, Vol.143 (1), p.166-169</ispartof><rights>1996 Elsevier Science B.V.</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c436t-de1725dc8ee69d9ee352de8fcf2b930ed01c141c4bd029849f431d7212ac0d3f3</citedby><cites>FETCH-LOGICAL-c436t-de1725dc8ee69d9ee352de8fcf2b930ed01c141c4bd029849f431d7212ac0d3f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0022-510X(96)00179-7$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2516517$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8981317$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Geerts, Y</creatorcontrib><creatorcontrib>Renier, W.O</creatorcontrib><creatorcontrib>Bakkeren, J</creatorcontrib><creatorcontrib>de Jong, J</creatorcontrib><title>2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>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.</description><subject>Aminoacid disorders</subject><subject>Biological and medical sciences</subject><subject>Early infantile epilepsy</subject><subject>Epilepsy - diagnosis</subject><subject>Epilepsy - etiology</subject><subject>Errors of metabolism</subject><subject>Glutarates - chemistry</subject><subject>Glutarates - urine</subject><subject>Humans</subject><subject>Hydroxyglutaric aciduria</subject><subject>Inborn error of metabolism</subject><subject>Infant</subject><subject>Isomerism</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Psychomotor delay</subject><subject>Psychomotor Disorders - diagnosis</subject><subject>Psychomotor Disorders - etiology</subject><subject>Renal Aminoacidurias - complications</subject><subject>Renal Aminoacidurias - diagnosis</subject><subject>Renal Aminoacidurias - urine</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtOHDEQRS0URCbAJyB5gaJk0WC7H7azQQglIRISixApO8tjl4NRd3tSdofM36fnodlmVYt7blXpEHLB2RVnvLv-zpgQVcvZzw-6-8gYl7qSR2TBlVRVq1T9hiwOyFvyLucXxlinlD4hJ0orXnO5IIOo7tce09_1r34qFqOj1kU_YbSfqKXOZqAIq4SFppHakcYx2LHQ11ieaXkG6quY0wCbYkg47AKEPxFeaQpbpI8F0JYJ4YwcB9tnON_PU_Ljy-enu_vq4fHrt7vbh8o1dVcqD1yK1jsF0GmvAepWeFDBBbHUNQPPuOMNd83SM6FVo0NTcy8FF9YxX4f6lLzf7V1h-j1BLmaI2UHf2xHSlI1UXSOZbmaw3YEOU84IwawwDhbXhjOz0Wy2ms3GodGd2Wo2cu5d7A9MywH8obX3OueX-9xmZ_uAdnQxHzDR8q7dYjc7DGYZszI02UUYHfiI4IrxKf7nkX9R8pr-</recordid><startdate>19961101</startdate><enddate>19961101</enddate><creator>Geerts, Y</creator><creator>Renier, W.O</creator><creator>Bakkeren, J</creator><creator>de Jong, J</creator><general>Elsevier B.V</general><general>Elsevier Science</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19961101</creationdate><title>2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature</title><author>Geerts, Y ; Renier, W.O ; Bakkeren, J ; de Jong, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c436t-de1725dc8ee69d9ee352de8fcf2b930ed01c141c4bd029849f431d7212ac0d3f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Aminoacid disorders</topic><topic>Biological and medical sciences</topic><topic>Early infantile epilepsy</topic><topic>Epilepsy - diagnosis</topic><topic>Epilepsy - etiology</topic><topic>Errors of metabolism</topic><topic>Glutarates - chemistry</topic><topic>Glutarates - urine</topic><topic>Humans</topic><topic>Hydroxyglutaric aciduria</topic><topic>Inborn error of metabolism</topic><topic>Infant</topic><topic>Isomerism</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Psychomotor delay</topic><topic>Psychomotor Disorders - diagnosis</topic><topic>Psychomotor Disorders - etiology</topic><topic>Renal Aminoacidurias - complications</topic><topic>Renal Aminoacidurias - diagnosis</topic><topic>Renal Aminoacidurias - urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Geerts, Y</creatorcontrib><creatorcontrib>Renier, W.O</creatorcontrib><creatorcontrib>Bakkeren, J</creatorcontrib><creatorcontrib>de Jong, J</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Geerts, Y</au><au>Renier, W.O</au><au>Bakkeren, J</au><au>de Jong, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>1996-11-01</date><risdate>1996</risdate><volume>143</volume><issue>1</issue><spage>166</spage><epage>169</epage><pages>166-169</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>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.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>8981317</pmid><doi>10.1016/S0022-510X(96)00179-7</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
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| ispartof | Journal of the neurological sciences, 1996-11, Vol.143 (1), p.166-169 |
| issn | 0022-510X 1878-5883 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_78647094 |
| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Aminoacid disorders Biological and medical sciences Early infantile epilepsy Epilepsy - diagnosis Epilepsy - etiology Errors of metabolism Glutarates - chemistry Glutarates - urine Humans Hydroxyglutaric aciduria Inborn error of metabolism Infant Isomerism Male Medical sciences Metabolic diseases Psychomotor delay Psychomotor Disorders - diagnosis Psychomotor Disorders - etiology Renal Aminoacidurias - complications Renal Aminoacidurias - diagnosis Renal Aminoacidurias - urine |
| title | 2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature |
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