CATECHOLAMINE PHENOTYPING - CLUES TO THE DIAGNOSIS, TREATMENT, AND PATHOPHYSIOLOGY OF NEUROGENETIC DISORDERS

One purpose of clinical neurochemistry has been to indicate ''activiti es'' of catecholamine systems, by assaying levels of the effector comp ounds or their metabolites in body fluids such as plasma, cerebrospina l fluid, urine, or microdialysate. This review discusses a new purpose : relating specific catecholaminergic phenotypes to neurogenetic disor ders. Distinctive catecholamine patterns in several neurogenetic condi tions reflect enzyme deficiencies as direct or indirect effects of gen e mutations. These neurochemical patterns can provide potentially impo rtant clues to the diagnosis, treatment, and pathophysiology of neurog enetic disorders. Linking genetic abnormalities with molecular mechani sms and clinical manifestations of disease represents a useful new dir ection in clinical neurochemistry.