title: Kinetic study of catecholamine metabolism in hereditary progressive dystonia.
abstract: Kinetics of catecholamine biosynthesis and metabolism have been examined in patients with hereditary progressive dystonia with marked diurnal fluctuation of symptoms (HPD, Segawa's disease). Three patients and a healthy control received an oral load of deuterated tyrosine, and monodeuterium labelled catecholamines and their metabolites in urine and plasma were examined by gas chromatography-mass spectrometry. Patients excreted normal amounts of the primary metabolites of dopamine (dihydroxyphenylacetic acid, homovanillic acid) in urine, suggesting normal rates of dopamine production. However, the biological half-life of dopamine in the patients was reduced to about half that of controls. Noradrenaline biosynthesis and metabolism were normal. Taken together, these results are interpreted to show a reduced biological half-life of dopamine in the brains of these patients, possibly caused by a defect in dopamine storage. Impaired dopamine storage may be the basis of the diurnal fluctuation in symptoms.
authors.affiliation: Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: A P
authors.initials: AP
authors.lastname: de Jong
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: J I
authors.initials: JI
authors.lastname: Manson
authors.forename: G A
authors.initials: GA
authors.lastname: Wise
authors.forename: R A
authors.initials: RA
authors.lastname: Ouvrier
authors.forename: S K
authors.initials: SK
authors.lastname: Wadman
mesh_terms: D000293:Adolescent; D002395:Catecholamines / Q000096:biosynthesis / Q000378:metabolism*; D002648:Child; D004421:Dystonia / Q000235:genetics / Q000378:metabolism*; D005260:Female; D006801:Humans; D007980:Levodopa / Q000378:metabolism; D014443:Tyrosine / Q000378:metabolism
chemical_list: D002395:Catecholamines; D014443:Tyrosine; D007980:Levodopa