Glutaric acidemia type I: a neurosurgical perspective
- 1 August 2007
- journal article
- case report
- Published by Journal of Neurosurgery Publishing Group (JNSPG) in Journal of Neurosurgery: Pediatrics
- Vol. 107 (2), 167-172
- https://doi.org/10.3171/ped-07/08/167
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.This publication has 38 references indexed in Scilit:
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