orthostatic hypotension 1

Dopamine beta hydroxylase deficiency

Dopamine beta (β)-hydroxylase deficiency is a human medical condition involving inadequate dopamine beta-hydroxylase. It is characterized by increased amounts of serum dopamine and the absence of norepinephrine (NE) and epinephrine. Dopamine is released, as a false neurotransmitter, in place of norepinephrine (a.k.a. noradrenaline and noradrenalin). This condition is sometimes referred to as "norepinephrine deficiency". Researchers of disorders such as schizophrenia are interested in studying this disorder, as patients with these specific diseases can have an increase in the amount of dopamine in their system and yet do not show other symptoms of DβH deficiency. Dopamine beta-hydroxylase deficiency is a rare form of dysautonomia. It belongs to the class of rare diseases, with "a prevalence of fewer than 20 affected individuals, all of Western European descent". It is an autosomal recessive disorder caused by a mutation in the DβH gene, which results in the production of a nonfunctional dopamine β-hydroxylase enzyme. Without this enzyme, patients with DβH deficiency develop many clinical manifestations that affect their daily lives.