Article type: Letter to Editor
Article
title: Role
of glutaric aciduria type 1 in movement disorders
Journal: Annals
of Movement Disorders
Year: 2022
Authors: Jamir Pitton Rissardo, Ana Letícia Fornari
Caprara
E-mail: jamirrissardo@gmail.com
ABSTRACT
In 2016, a task force by the International Parkinson
and Movement Disorder Society reported recommendations for the nomenclature of
genetic movement disorders. Among the genetic diseases listed, glutaric
aciduria type 1 (OMIM#231670) was characterized as complex dystonia
(predominant dystonia in a complex phenotypic presentation). The new
designation/abbreviation for this genetic disease was DYT/CHOR-GCDH. In
addition, the task force provided clinical clues to this disorder. For example,
dystonia and chorea usually occur after acute metabolic crises, while Parkinsonism
presents later in the disease course.
Keywords: Glutaric aciduria type 1,
dyt/chor-gcdh, krebs cycle, and putamen
Full text available at:
DOI
10.4103/AOMD.AOMD_39_21
Citation
Rissardo
JP, Caprara AL. Role of glutaric aciduria type
1 in movement disorders. Ann Mov Disord 2022;5:79-80
