Dopamine beta-hydroxylase deficiency is a very rare
form of primary autonomic failure characterized by a
complete absence of noradrenaline and adrenaline in plasma
together with increased dopamine plasma levels resulting from
heterogenous molecular alterations of DbH gene.
DbH deficiency is characterized by by cardiovascular disorders
and severe orthostatic hypotension.
Children with DbH deficiency often exhibit reduced ability to exercise
because of blood pressure inadaptation with exertion and syncope.
Symptoms usually worsen during adulthood with severe orthostatic
hypotension, eyelid ptosis, nasal stuffiness and sexual disorders.
Authors: Prof. Jean-Michel Senard, Dr Philippe Rouet
INSERM Unit 586, Insittut Louis Bugnard, C.H.U. Rangueil, 31054,
Toulouse Cedex, France
July 2005