Dopamine beta-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. The signs and symptoms of dopamine beta-hydroxylase deficiency are caused by a lack of norepinephrine, one of the main chemical messengers (neurotransmitters) of the autonomic nervous system.

Variants (also called mutations) in the DBH gene cause dopamine beta-hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine beta-hydroxylase. This enzyme converts dopamine to norepinephrine. Both dopamine and norepinephrine are neurotransmitters that transmit signals from nerve cells to other cells in the body.

Dopamine beta-hydroxylase deficiency is a very rare disorder. As of 2021, approximately 25 individuals with this condition have been described in the scientific literature.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Published Date: July 31, 2024
Published By: National Institutes of Health