Exaggerated Response to Infused Norepinephrine in Familial Dysautonomia

Abstract

FAMILIAL dysautonomia is an inherited disease with a complex but fairly well defined symptomatology. Alacrima, postural hypotension, poor motor co-ordination and a relative indifference to pain are among the more prominent and consistent symptoms. The disease commonly affects siblings and is largely if not entirely restricted to Jews.1 A previous study has demonstrated that in dysautonomia, the urinary excretion of homovanillic acid is increased and that of vanillyl-mandelic acid is decreased,2 suggesting that such patients may suffer from a deficiency of endogenous epinephrine and norepinephrine. Chronic deficiency of norepinephrine may lead to increased sensitivity of adrenergic receptors.3 The possibility that . . .