Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.
J Neurosurg
; 107(2 Suppl): 167-72, 2007 Aug.
Article
em En
| MEDLINE
| ID: mdl-18459892
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias Metabólicas Congênitas
/
Glutaril-CoA Desidrogenase
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Screening_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article