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Dopamine beta-hydroxylase deficiency

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.

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 treatment for dopamine beta-hydroxylase deficiency?

You may find information on treatment or management of dopamine beta-hydroxylase deficiency or some of its symptoms in the links below, particularly the links for Gene Reviews, Educational resources, and Patient support.

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.

  • MedlinePlus - Health information
    Health Topic: Autonomic Nervous System Disorders (http://www.nlm.nih.gov/medlineplus/autonomicnervoussystemdisorders.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke: Dysautonomia Information Page (http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm)
  • Educational resources - Information pages
    • American Heart Association: Autonomic Nervous System (http://www.americanheart.org/presenter.jhtml?identifier=4463)
    • Merck Manual Home Edition for Patients and Caregivers: Autonomic Nervous System Disorders (http://www.merck.com/mmhe/sec06/ch098666/ch098666a.html?&alt=sh)
    • Merck Manual Home Edition for Patients and Caregivers: Orthostatic Hypotension (http://www.merck.com/mmhe/sec03/ch023/ch023c.html#sec03-ch023-ch023c)
    • New York Online Access to Health: Orthostatic Hypotension (http://www.noah-health.org/en/bns/disorders/other/orthostatic.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=230)
    • The Cleveland Clinic: Dysautonomia (http://my.clevelandclinic.org/disorders/dysautonomia/hic_dysautonomia.aspx)
    • Vanderbilt Autonomic Dysfunction Center (http://www.mc.vanderbilt.edu/root/vumc.php?site=adc&doc=4792)
    • Washington Univeristy, St. Louis: Neuromuscular Disease Center (http://neuromuscular.wustl.edu/autonomic.html#dbh)
  • Patient support - For patients and families
    • CLIMB: Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk/)
    • National Dysautonomia Research Foundation (http://ndrf.org/dopamine.htm)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dbh)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=216551)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22dopamine+beta-hydroxylase+deficiency%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((dopamine+beta-hydroxylase+deficiency[TIAB])+OR+(norepinephrine+deficiency[TIAB]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223360)

What other names do people use for dopamine beta-hydroxylase deficiency?

  • dopamine β-hydroxylase
  • noradrenaline deficiency
  • norepinephrine deficiency

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about dopamine beta-hydroxylase deficiency?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

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 ; involuntary ; joint ; mutation ; nerve cell ; nervous system ; neurotransmitters ; orthostatic ; ptosis ; recessive ; semen ; sign ; symptom

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Cubells JF, Zabetian CP. Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology. Psychopharmacology (Berl). 2004 Aug;174(4):463-76. Epub 2004 Apr 16. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15088079)
  • Gene Review: Dopamine Beta-Hydroxylase Deficiency (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dbh)
  • Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS. Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. Am J Med Genet. 2002 Mar 1;108(2):140-7. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11857564)
  • Robertson D. The pathophysiology and diagnosis of orthostatic hypotension. Clin Auton Res. 2008 Mar;18 Suppl 1:2-7. Epub 2008 Mar 27. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=18368300)
  • Senard JM, Rouet P. Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis. 2006 Mar 30;1:7. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16722595)
  • Vincent S, Robertson D. The broader view: catecholamine abnormalities. Clin Auton Res. 2002 May;12 Suppl 1:I44-9. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12102462)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2008
Published: May 11, 2009