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Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware.
- Source :
- Movement Disorders Clinical Practice; Jan2016, Vol. 3 Issue 1, p104-105, 2p
- Publication Year :
- 2016
-
Abstract
- The article presents a case study of a 28-year-old woman who had an isolated methylmalonic aciduria (MMA), an autosomal-recessive disorder of amino acid metabolism and it needs to be address to the adult neurology service. She had no other relevant family history after presented with seizures and generalized dystonia. She undergone brain magnetic resonance imaging (MRI) wherein the findings shown striking pallidal hyperintensity. Also mentions the prevalence of the isolated MMA.
Details
- Language :
- English
- ISSN :
- 23301619
- Volume :
- 3
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Movement Disorders Clinical Practice
- Publication Type :
- Academic Journal
- Accession number :
- 115275634
- Full Text :
- https://doi.org/10.1002/mdc3.12237