Abnormal Catechol Amine Metabolism in Familial Dysautonomia

Abstract

FAMILIAL dysautonomia is a rare congenital disorder that occurs primarily in Jewish children.¹ The more striking manifestations of the disease include reduced or absent tearing, transient skin blotching, profuse sweating, abnormal swallowing reflex and instability of temperature control. Postural hypotension is a regular finding in this syndrome although the blood pressure may rise during excitement.Riley² has suggested that the many manifestations of familial dysautonomia may result from a singleenzyme defect. Since autonomie dysfunction is so prominent in this disorder, a defect in catechol amine metabolism may be involved. The excretion rates of catechol amine catabolites, homovanillic (HVA) and vanillyl-mandelic . . .