L-2-hydroxyglutaric aciduria: Report of four Turkish adult patients
Neurologist, vol.16, no.1, pp.44-46, 2010 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 16 Issue: 1
- Publication Date: 2010
- Doi Number: 10.1097/nrl.0b013e31819f9556
- Journal Name: Neurologist
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.44-46
- Keywords: L-2-hydroxy glutaric aciduria, epilepsy, MRI findings, adult cases, ACIDEMIA, DEHYDROGENASE, DISEASE, MRI
- Hacettepe University Affiliated: Yes
Abstract
Background: L-2-Hydroxyglutaric aciduria is a rare progressive neurometabolic disorder of childhood inherited as an autosomal recessive trait. Urine organic-acid screening is necessary for its diagnosis. Although it is a disorder of childhood, recently adult cases have been reported.