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

Garbade, Sven; Greenberg, Cheryl; Demirkol, Mubeccel; Gokcay, GÜLDEN; Ribes, Antonia; Campistol, Jaume; Burlina, Alberto; Burgard, Peter; Koelker, Stefan

doi:10.1007/s10545-014-9676-9

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 (SCI-Expanded, Scopus)

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 (SCI-EXPANDED), Scopus
Page Numbers: pp.763-73
Istanbul University Affiliated: Yes

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.