title: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
abstract: We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. muelhau@uke.uni-hamburg.de
authors.forename: C
authors.initials: C
authors.lastname: Mühlhausen
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: N
authors.initials: N
authors.lastname: Muschol
authors.forename: K
authors.initials: K
authors.lastname: Ullrich
authors.forename: Z
authors.initials: Z
authors.lastname: Lukacs
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005838:Genotype; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D010641:Phenotype
chemical_list: D005977:Glutarates; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid