Article
L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.
European journal of neurology - 1 May 2006
Goffette S M, Duprez T P, Nassogne M-C L, Vincent M-F A, Jakobs C, Sindic C J
Abstract excerpt
L-2-Hydroxyglutaric (L-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal symptoms, and seizures. The disease is characterized by increased levels of L-2-HG in body fluids such as urine and...
Topics
- Adult
- Age of Onset
- Brain
- Electromyography
- Epilepsy
- Female
- Glutarates
- Humans
- Intellectual Disability
- Magnetic Resonance Imaging
- Metabolism, Inborn Errors
- Mutation
- Siblings