Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.
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.
Hou
Lewis C
LC
Department of Neurosurgery, Stanford University School of Medicine, California 94305-5327, USA.
Veeravagu
Anand
A
Hsu
Andrew R
AR
Enns
Gregory M
GM
Huhn
Stephen L
SL
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
D050770:Glutaryl-CoA Dehydrogenase