title: Catecholamine metabolism in kinky hair disease.
abstract: Kinky hair disease is a progressive neurologic disease associated with decreased copper absorption. Because dopamine-beta-hydroxylase, an essential enzyme in norepinephrine biosynthesis, is copper-dependent, we studied norepinephrine metabolism in vivo in 5 affected children. Patients with kinky hair disease had decreased plasma norepinephrine concentrations (196 +/- 25 pg/ml) in comparison to control patients (325 +/- 20 pg/ml, p less than 0.001). The ratio of total urinary norepinephrine metabolites to total dopamine metabolites was 0.25 +/- 0.04 in kinky hair patients and 0.52 +/- 0.03 in controls p less than 0.001). These data indicate that dopamine-beta-hydroxylation in vivo is decreased in patients with kinky hair disease; however, there was no correlation between serum copper concentration and catecholamine abnormality.
authors.affiliation: Department of Medicine, Temple University Hospital, Philadelphia, PA 19140.
authors.forename: R D
authors.initials: RD
authors.lastname: Hoeldtke
authors.forename: S T
authors.initials: ST
authors.lastname: Cavanaugh
authors.forename: J D
authors.initials: JD
authors.lastname: Hughes
authors.forename: K
authors.initials: K
authors.lastname: Mattis-Graves
authors.forename: E
authors.initials: E
authors.lastname: Hobnell
authors.forename: W D
authors.initials: WD
authors.lastname: Grover
mesh_terms: D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000378:metabolism*; D002395:Catecholamines / Q000378:metabolism*; D002675:Child, Preschool; D004298:Dopamine / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000378:metabolism*; D009638:Norepinephrine / Q000378:metabolism
chemical_list: D002395:Catecholamines; D004298:Dopamine; D009638:Norepinephrine