DBH

Dopamine beta-hydroxylase deficiency

Several variants (also called mutations) in the DBH gene have been found to cause dopamine beta-hydroxylase deficiency, a rare condition that affects the autonomic nervous system. The variant that is most often seen in people with dopamine beta-hydroxylase deficiency interferes with the normal processing of dopamine beta-hydroxylase. This variant causes the cell to produce an abnormally short, nonfunctional version of the enzyme. Most variants interfere with the cell's ability to produce functional dopamine beta-hydroxylase. This results in the absence of norepinephrine, leading to the signs and symptoms of dopamine beta-hydroxylase deficiency.