title: Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.
abstract: Glutaric acidemia type I (GA-I) is a rare, autosomal recessive metabolic disorder that leads to severe dystonia, basal ganglia degeneration, and bilaterally enlarged anterior middle cranial fossae. The current management of this disease includes early diagnosis with newborn screening, prevention of catabolism, carnitine supplementation, and a strict dietary protein restriction. Neurosurgical evaluation and intervention may be necessary in patients with structural lesions associated with this disease. In this report, the authors present two pediatric patients with GA-I and discuss the neurosurgical aspects of this rare medical disorder.
authors.affiliation: Department of Neurosurgery, Stanford University School of Medicine, California 94305-5327, USA.
authors.forename: Lewis C
authors.initials: LC
authors.lastname: Hou
authors.forename: Anand
authors.initials: A
authors.lastname: Veeravagu
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Hsu
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Enns
authors.forename: Stephen L
authors.initials: SL
authors.lastname: Huhn
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000517:prevention & control / Q000601:surgery*; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000517:prevention & control / Q000601:surgery*; D002675:Child, Preschool; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D008297:Male
chemical_list: D050770:Glutaryl-CoA Dehydrogenase