title: Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect.
abstract: 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.
authors.affiliation: Department of Neurology, Albany Medical College, NY 12208.
authors.forename: S A
authors.initials: SA
authors.lastname: Factor
authors.forename: R J
authors.initials: RJ
authors.lastname: Coni
authors.forename: M
authors.initials: M
authors.lastname: Cowger
authors.forename: E L
authors.initials: EL
authors.lastname: Rosenblum
mesh_terms: D000284:Administration, Oral; D001708:Biopterins / Q000008:administration & dosage / Q000096:biosynthesis / Q000172:deficiency*; D005121:Extremities / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D009055:Mouth / Q000503:physiopathology; D009069:Movement Disorders / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D010649:Phenylalanine / Q000097:blood; D014202:Tremor / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology
chemical_list: D001708:Biopterins; D007980:Levodopa; D010649:Phenylalanine