Catecholamine Release in Familial Dysautonomia

Abstract

PROMINENT among the symptoms of familial dysautonomia are the manifestations of autonomic dysfunction.¹ A disturbance in catecholamine metabolism has been documented by the demonstration of high homovanillic acid and low vanillyl-mandelic acid urinary excretion rates.² This evidence of pressor catecholamine insufficiency correlates well with the postural hypotension that is consistently found in familial dysautonomia Infusions of relatively small amounts of norepinephrine produce hypertension and patchy erythema,³ suggesting heightened reactivity to sympathetic substances, rather than an excessive production of norepinephrine, as the cause of the clinical symptoms.The abnormality in catecholamine metabolism has now been further explored by measurement of the . . .