title: Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.
abstract: Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase, an enzyme responsible for the catabolism of lysine, hydroxylysine and tryptophan. The most important neurological symptoms include dyskinesia and dystonia, which can be focal, segmental or generalized. Treatment of the extrapyramidal syndrome is often unsatisfactory. We report our experience in the treatment of generalized and focal dystonia with anticholinergic drugs and botulinum toxin type A, respectively. Both therapies proved beneficial.
authors.affiliation: Department of Neuroscience, University Hospital of Padova, I-35128 Padova, Italy.
authors.forename: A P
authors.initials: AP
authors.lastname: Burlina
authors.forename: G
authors.initials: G
authors.lastname: Zara
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D001480:Basal Ganglia Diseases / Q000209:etiology / Q000628:therapy; D001905:Botulinum Toxins / Q000627:therapeutic use*; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D018680:Cholinergic Antagonists / Q000627:therapeutic use*; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000209:etiology* / Q000628:therapy*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency*; D014057:Tomography, X-Ray Computed
chemical_list: D018680:Cholinergic Antagonists; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; D001905:Botulinum Toxins