Abstract
Summary: Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase, an enzyme responsible for the catabolism of lysine, hydroxylysine and tryptophan. The most important neurological symptoms include dyskinesia and dystonia, which can be focal, segmental or generalized. Treatment of the extrapyramidal syndrome is often unsatisfactory. We report our experience in the treatment of generalized and focal dystonia with anticholinergic drugs and botulinum toxin type A, respectively. Both therapies proved beneficial.
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Burlina, A.P., Zara, G., Hoffmann, G.F. et al. Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options. J Inherit Metab Dis 27, 911–915 (2004). https://doi.org/10.1023/B:BOLI.0000045776.50573.52
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DOI: https://doi.org/10.1023/B:BOLI.0000045776.50573.52