Document Detail


3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
MedLine Citation:
PMID:  15033206     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Sabine Illsinger; Thomas Lücke; Johannes Zschocke; Kenneth M Gibson; Anibh M Das
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  30     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2004 Mar 
Date Detail:
Created Date:  2004-03-22     Completed Date:  2004-08-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  213-5     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Medical School Hanover, Hanover, Germany.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Metabolism, Inborn Errors / 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:
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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