Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.


Garbade S. F. , Greenberg C. R. , Demirkol M., Gokcay G. F. , Ribes A., Campistol J., ...More

Journal of inherited metabolic disease, vol.37, no.5, pp.763-73, 2014 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 5
  • Publication Date: 2014
  • Doi Number: 10.1007/s10545-014-9676-9
  • Journal Name: Journal of inherited metabolic disease
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.763-73

Abstract

Background Glutaric aciduria type I (GA-I) is a cerebral organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase and is characterized biochemically by an accumulation of putatively neurotoxic dicarboxylic metabolites. The majority of untreated patients develops a complex movement disorder with predominant dystonia during age 3-36 months. Magnetic resonance imaging (MRI) studies have demonstrated striatal and extrastriatal abnormalities.