Glutaric acidemia type I: a neurosurgical perspective. Report of two cases

J Neurosurg. 2007 Aug;107(2 Suppl):167-72. doi: 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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / prevention & control
  • Amino Acid Metabolism, Inborn Errors / surgery*
  • Brain Diseases, Metabolic, Inborn / diagnosis*
  • Brain Diseases, Metabolic, Inborn / prevention & control
  • Brain Diseases, Metabolic, Inborn / surgery*
  • Child, Preschool
  • Glutaryl-CoA Dehydrogenase / deficiency*
  • Humans
  • Male

Substances

  • Glutaryl-CoA Dehydrogenase