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Dopamine beta -hydroxylase deficiency is a condition involving inadequate dopamine beta-hydroxylase. It is characterized by increased amounts of serum dopamine and the absence of norepinephrine and epinephrine. Dopamine is released, as a false neurotransmitter, in place of norepinephrine. Other names for norepinephrine include noradrenaline and noradrenalin. This condition is also 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 very 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", as described in the scientific literature. 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, the patients with DβH deficiency develop many clinical manifestations which greatly affect their daily lives.