title: Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
abstract: We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9-year-old brother had severe expressive speech delay and delay in speech sound development with normal cognitive functions. The diagnosis was confirmed by a demonstration of 3-methylglutaconyl-CoA hydratase enzyme deficiency in the cultured skin fibroblasts and homozygous deletion of exons 1-3 within the AUH gene.
authors.affiliation: Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada. smahmutoglu@cw.bc.ca
authors.forename: Saadet
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
authors.forename: Tracy
authors.initials: T
authors.lastname: Tucker
authors.forename: Brett
authors.initials: B
authors.lastname: Casey
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D004746:Enoyl-CoA Hydratase / Q000235:genetics*; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008969:Molecular Sequence Data; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: D005977:Glutarates; D016601:RNA-Binding Proteins; C022034:3-methylglutaconic acid; D006836:Hydro-Lyases; C092554:AUH protein, human; D004746:Enoyl-CoA Hydratase; C035867:methylglutaconyl-CoA hydratase