Article
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
Metabolic brain disease - 1 Jun 2016
Sass Jörn Oliver, Vaithilingam Jathana, Gemperle-Britschgi Corinne, Delnooz Cathérine C S, Kluijtmans Leo A J, van de Warrenburg Bart P C, Wevers Ron A
Abstract excerpt
Aminoacylase 1 (ACY1) deficiency is an organic aciduria due to mutations in the ACY1 gene. It is considered much underdiagnosed. Most individuals known to be affected by ACY1 deficiency have presented with neurologic symptoms. We report here a cognitively normal 63-year-old woman who around the age of 12 years had developed dystonic symptoms that gradually evolved into generalized dystonia. Extensive...
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