title: Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
abstract: Sepiapterin reductase deficiency (SRD) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive movement disorder. We describe a patient with SRD and distinctive phenotypic feature of marked hypersomnolence. Our patient showed improvement with therapies directed at both serotonergic and dopaminergic deficiencies. This case illustrates symptoms that characterize the SRD phenotype and demonstrates the importance of systematic treatment trials addressing the various biochemical abnormalities present.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. jrfriedman@chsd.org
authors.forename: Jennifer
authors.initials: J
authors.lastname: Friedman
authors.forename: Keith
authors.initials: K
authors.lastname: Hyland
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Mia
authors.initials: M
authors.lastname: MacCollin
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000172:deficiency* / Q000378:metabolism; D006970:Disorders of Excessive Somnolence / Q000188:drug therapy / Q000201:enzymology*; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008659:Metabolic Diseases / Q000188:drug therapy / Q000201:enzymology; D009069:Movement Disorders / Q000188:drug therapy / Q000201:enzymology*
chemical_list: D007980:Levodopa; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase