3-Methylglutaconic aciduria type I in a boy with fever-associated seizures

Pediatric Neurology

Volumn 30, Issue 3, 2004, Pages 213-215

  Illsinger, Sabine ^a   Lücke, Thomas ^a   Zschocke, Johannes ^b   Gibson, Kenneth M ^c   Das, Anibh M ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYISOVALERIC ACID; 3 METHYLGLUTACONIC ACID; 3 METHYLGLUTACONYL COENZYME A HYDRATASE; ADENOSINE AND URACIL SPECIFIC RIBONUCLEIC ACID BINDING ENOYL COENZYME A HYDRATASE; CARBOXYLIC ACID; HYDROLYASE; LEUCINE; UNCLASSIFIED DRUG; VALERIC ACID DERIVATIVE;

ACIDURIA; ARTICLE; AUH GENE; CASE REPORT; CATABOLISM; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEBRILE CONVULSION; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; MALE; METABOLIC DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SKIN FIBROBLAST; URINE;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ENOYL-COA HYDRATASE; FIBROBLASTS; FOLLOW-UP STUDIES; GLUTARATES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDRO-LYASES; INTRONS; MALE; PHENOTYPE; RECURRENCE; RNA SPLICE SITES; RNA-BINDING PROTEINS; SEIZURES, FEBRILE; VALERATES;

EID: 1642326780     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2003.09.016     Document Type: Article

References (14)

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2. Ly Nga T.B., Peters V., Gibson K.M., et al. Mutations in the AUH gene cause 3-methylglutaconic aciduria Type I. Hum Mutat. 21:2003;401-407.
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