title: Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
abstract: One purpose of clinical neurochemistry has been to indicate "activities" of catecholamine systems, by assaying levels of the effector compounds or their metabolites in body fluids such as plasma, cerebrospinal fluid, urine, or microdialysate. This review discusses a new purpose: relating specific catecholaminergic phenotypes to neurogenetic disorders. Distinctive catecholamine patterns in several neurogenetic conditions reflect enzyme deficiencies as direct or indirect effects of gene mutations. These neurochemical patterns can provide potentially important clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders. Linking genetic abnormalities with molecular mechanisms and clinical manifestations of disease represents a useful new direction in clinical neurochemistry.
authors.affiliation: Clinical Neuroscience Branch, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, NIH 20892-1424, USA.
authors.forename: D S
authors.initials: DS
authors.lastname: Goldstein
authors.forename: J W
authors.initials: JW
authors.lastname: Lenders
authors.forename: S G
authors.initials: SG
authors.lastname: Kaler
authors.forename: G
authors.initials: G
authors.lastname: Eisenhofer
mesh_terms: D000818:Animals; D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000172:deficiency; D002395:Catecholamines / Q000235:genetics* / Q000378:metabolism; D004062:DiGeorge Syndrome / Q000503:physiopathology; D004299:Dopamine beta-Hydroxylase / Q000172:deficiency; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000503:physiopathology; D008995:Monoamine Oxidase / Q000172:deficiency; D009422:Nervous System Diseases / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy; D010641:Phenotype; D010661:Phenylketonurias; D013577:Syndrome; D014820:Vitiligo / Q000503:physiopathology
chemical_list: D002395:Catecholamines; D004299:Dopamine beta-Hydroxylase; D008995:Monoamine Oxidase; D001142:Aromatic-L-Amino-Acid Decarboxylases