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Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware.

Authors :
Tan, Ai Huey
Mah, Jordina Siu Yi
Thong, Meow Keong
Lim, Shen‐Yang
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