Question: How many people are affected by dopamine beta-hydroxylase deficiency ?
Answer: Dopamine -hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature.
Source: GHR

Question: What are the genetic changes related to dopamine beta-hydroxylase deficiency ?
Answer: Mutations in the DBH gene cause dopamine -hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine -hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. DBH gene mutations result in the production of a nonfunctional dopamine -hydroxylase enzyme. People who lack functional dopamine -hydroxylase cannot convert dopamine to norepinephrine, which leads to a shortage of norepinephrine in the body. The lack of norepinephrine causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine -hydroxylase deficiency.
Source: GHR

Question: What are the treatments for dopamine beta-hydroxylase deficiency ?
Answer: These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency: - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency - Genetic Testing Registry: Dopamine beta hydroxylase deficiency - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR