title: Anesthetic management in two siblings with glutaric aciduria type 1.
abstract: Glutaric aciduria type 1 (GA-1) is an inborn error of metabolism that results from a deficiency of glutaryl-CoA dehydrogenase. This disorder mainly manifests in early childhood and most patients with this condition develop a dystonic-dyskinetic syndrome. We report the anesthetic management of two sisters with GA-1, aged 30 and 17 months respectively at the time of surgery, who presented with macrocephaly and psychomotor delay. The children required CSF shunting procedures for hydrocephalus and subdural fluid collections, which were performed under total intravenous anesthesia with propofol and remifentanil.
authors.affiliation: Staff Anaesthesiologist, Department of Anaesthesia, H.U. Virgen de la Arrixaca, Murcia, Spain. joapal@ono.com
authors.forename: Joaquín
authors.initials: J
authors.lastname: Hernández-Palazón
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Sánchez-Ródenas
authors.forename: Juan F
authors.initials: JF
authors.lastname: Martínez-Lage
authors.forename: Isabel Castaño
authors.initials: IC
authors.lastname: Collado
mesh_terms: D000758:Anesthesia / Q000379:methods*; D018686:Anesthetics, Intravenous / Q000008:administration & dosage* / Q000009:adverse effects; D002557:Cerebrospinal Fluid Shunts / Q000379:methods; D002675:Child, Preschool; D020821:Dystonic Disorders; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006257:Head / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000601:surgery; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics / Q000601:surgery*; D010880:Piperidines / Q000008:administration & dosage / Q000009:adverse effects; D015742:Propofol / Q000008:administration & dosage / Q000009:adverse effects; D011596:Psychomotor Disorders / Q000150:complications; D000077208:Remifentanil; D035781:Siblings
chemical_list: D018686:Anesthetics, Intravenous; D005977:Glutarates; D010880:Piperidines; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D000077208:Remifentanil; D015742:Propofol