title: 3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.
authors.affiliation: University Children's Hospital Freiburg, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Ensenauer
authors.forename: C B
authors.initials: CB
authors.lastname: Müller
authors.forename: K O
authors.initials: KO
authors.lastname: Schwab
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: M
authors.initials: M
authors.lastname: Brandis
authors.forename: W
authors.initials: W
authors.lastname: Lehnert
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy / Q000652:urine; D002478:Cells, Cultured; D018753:Diet, Protein-Restricted; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D005977:Glutarates / Q000652:urine; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D015093:Meglutol / Q000031:analogs & derivatives / Q000652:urine; D013064:Speech Disorders / Q000209:etiology*; D014631:Valerates / Q000652:urine
chemical_list: D005977:Glutarates; D014631:Valerates; C004961:beta-hydroxyisovaleric acid; C033686:3-methylglutaric acid; C022034:3-methylglutaconic acid; D015093:Meglutol; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase