Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
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.
Friedman
Jennifer
J
Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. jrfriedman@chsd.org
Hyland
Keith
K
Blau
Nenad
N
MacCollin
Mia
M
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*
D007980:Levodopa; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase