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Dopamine beta-hydroxylase deficiency
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Reviewed September 2008
What is dopamine beta-hydroxylase deficiency?
Dopamine beta (β)-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. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
Individuals with dopamine β-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine β-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.
Other features of dopamine β-hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.
How common is dopamine beta-hydroxylase deficiency?
Dopamine β-hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature.
What genes are related to dopamine beta-hydroxylase deficiency?
Mutations in the DBH gene cause dopamine β-hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine β-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 β-hydroxylase enzyme. People who lack functional dopamine β-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 β-hydroxylase deficiency.
Read more about the DBH gene.
How do people inherit dopamine beta-hydroxylase deficiency?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of dopamine beta-hydroxylase deficiency?
These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about dopamine beta-hydroxylase deficiency?
You may find the following resources about dopamine beta-hydroxylase deficiency helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for dopamine beta-hydroxylase deficiency?
What if I still have specific questions about dopamine beta-hydroxylase deficiency?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding dopamine beta-hydroxylase deficiency?
autonomic nervous system ; autosomal ; autosomal recessive ; cell ; deficiency ; dehydration ; dopamine ; enzyme ; fainting ; gene ; hypermobility ; hypoglycemia ; hypotension ; inherited ; involuntary ; joint ; nervous system ; neurotransmitters ; orthostatic ; ptosis ; recessive ; semen
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.