| 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. | |
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MedLine Citation:
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PMID: 15033206 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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3-Methylglutaconic-aciduria type I (MGA1, OMIM 250950) resulting from 3-Methylglutaconyl-coenzyme A hydratase deficiency is a rare inherited metabolic disorder of l-leucine catabolism. We diagnosed this condition in a 4-year-old German male with generalized fever-associated seizures from the age of 12 months and normal psychomotor development. First he was considered to suffer from uncomplicated febrile seizures. After his eighth seizure, laboratory investigations were performed to exclude inborn errors of metabolism. Analysis of organic acids in urine indicated highly elevated concentrations of 3-methylglutaconic and 3-hydroxyisovaleric acids. 3-Methylglutaconyl-coenzyme A hydratase activity was markedly decreased in skin fibroblasts. Mutation analysis in the AUH gene revealed homozygosity for a novel splice site mutation IVS9-2A>G. We conclude that MGA1 may be associated with fever-associated seizures even in children without delayed psychomotor development. |
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Authors:
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Sabine Illsinger; Thomas Lücke; Johannes Zschocke; Kenneth M Gibson; Anibh M Das |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 30 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2004 Mar |
Date Detail:
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Created Date: 2004-03-22 Completed Date: 2004-08-03 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 213-5 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, Medical School Hanover, Hanover, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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diagnosis,
enzymology,
genetics* Child Child, Preschool DNA Mutational Analysis Diagnosis, Differential Enoyl-CoA Hydratase / genetics* Fibroblasts / enzymology Follow-Up Studies Glutarates / urine* Heterozygote Homozygote Humans Hydro-Lyases / deficiency*, genetics Introns / genetics Male Phenotype RNA Splice Sites / genetics RNA-Binding Proteins / genetics* Recurrence Seizures, Febrile / enzymology, genetics* Valerates / urine |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 0/RNA Splice Sites; 0/RNA-Binding Proteins; 0/Valerates; 0/ribonucleic acids intervening sequence; 5746-90-7/3-methylglutaconic acid; 625-08-1/beta-hydroxyisovaleric acid; EC 4.2.1.-/Hydro-Lyases; EC 4.2.1.17/AUH protein, human; EC 4.2.1.17/Enoyl-CoA Hydratase; EC 4.2.1.18/methylglutaconyl-CoA hydratase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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