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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect.

We report a child with a systemic biopterin synthesis defect due to an absence of 6-pyruvoyl-tetrahydropterin synthase who had an unusual presentation, with three episodes of coarse "rubral-like" tremor in arms and legs orofacial dyskinesia between the ages of 3 and 6 months. Response to levodopa therapy and CSF neurotransmitter metabolite concentrations before and after therapy suggests that his clinical syndrome resulted from a secondary dopamine deficiency.[1]

References

  1. Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect. Factor, S.A., Coni, R.J., Cowger, M., Rosenblum, E.L. Neurology (1991) [Pubmed]
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