Abstract
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.
MeSH terms
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Adolescent
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Adult
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Amino Acid Metabolism, Inborn Errors / complications*
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Amino Acid Metabolism, Inborn Errors / diagnostic imaging
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Amino Acid Metabolism, Inborn Errors / pathology
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Basal Ganglia Diseases / etiology
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Basal Ganglia Diseases / therapy
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Botulinum Toxins / therapeutic use*
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Brain / diagnostic imaging
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Child
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Cholinergic Antagonists / therapeutic use*
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Female
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Glutaryl-CoA Dehydrogenase
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Humans
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Magnetic Resonance Imaging
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Male
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Movement Disorders / etiology*
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Movement Disorders / therapy*
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Oxidoreductases Acting on CH-CH Group Donors / deficiency*
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Tomography, X-Ray Computed
Substances
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Cholinergic Antagonists
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Oxidoreductases Acting on CH-CH Group Donors
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Glutaryl-CoA Dehydrogenase
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Botulinum Toxins