Dopamine beta-hydroxylase deficiency;
Norepinephrine deficiency;
Noradrenaline deficiency

Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series of mutations in the DBH gene encoding the key enzyme in noradrenaline synthesis.

Nervous system disease

DBH [HSA:1621] [KO:K00503]

Complete absence of noradrenaline and adrenaline in plasma.
Increased dopamine plasma levels.

Droxidopa [DR:D01277]

PMID:20301647

Robertson D, Garland EM

Dopamine Beta-Hydroxylase Deficiency

(1993)

PMID:16722595

Senard JM, Rouet P

Dopamine beta-hydroxylase deficiency.

Orphanet J Rare Dis 1:7 (2006)