National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dopamine beta hydroxylase deficiency


Other Names:
Norepinephrine deficiency; Noradrenaline deficiency; Dopamine beta-hydroxylase deficiency, congenital
Categories:
This disease is grouped under:
Dopamine beta hydroxylase deficiency is a disease which affects the body’s ability to regulate blood pressure and body temperature. Symptoms typically begin in late childhood and include vomiting, dehydration, low blood pressure, especially upon standing (orthostatic hypotension), and low blood sugar levels (hypoglycemia). Low blood pressure can also cause dizziness, blurred vision, and difficulty exercising. Other symptoms may include drooping eyelids (ptosis), nasal congestion, muscle pain, and weakness. Dopamine beta hydroxylase deficiency is caused by mutation in the DBH gene and is inherited in an autosomal recessive manner. Diagnosis is based on blood tests showing high dopamine levels and low norepinephrine levels. Treatment with a synthetic form of norepinephrine can reduce hypotension.[1][2] 
Last updated: 8/27/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bilateral ptosis
Drooping of both upper eyelids
0001488
Elevated urinary dopamine 0011979
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
Rhinitis
Nasal inflammation
0012384
30%-79% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ] 		0003259
Exercise-induced muscle fatigue 0009020
Fatigue
Tired
Tiredness
[ more ] 		0012378
Hypoglycemia
Low blood sugar
0001943
Increased blood urea nitrogen 0003138
Reduced tendon reflexes 0001315
Retrograde ejaculation 0012877
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
5%-29% of people have these symptoms
Abnormal EKG
Abnormal ECG
0003115
Blurred vision 0000622
Chest pain 0100749
Dehydration 0001944
Diarrhea
Watery stool
0002014
Dyspnea
Trouble breathing
0002094
Hypothermia
Abnormally low body temperature
0002045
Muscular hypotonia
Low or weak muscle tone
0001252
Nocturia 0000017
Orthostatic syncope 0012670
Vertigo
Dizzy spell
0002321
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Hyperinsulinemia 0000842
Insulin resistance
Body fails to respond to insulin
0000855
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Neonatal hypoglycemia
Low blood sugar in newborn
0001998
Ptosis
Drooping upper eyelid
0000508
Seizure 0001250
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Droxidopa (Brand name: Northera) - Manufactured by Chelsea Therapeutics, Inc.
    FDA-approved indication: February 2014, Droxidopa (Northera) was approved for the treatment of orthostatic dizziness, lightheadedness, or the "feeling that you are about to black out" in adult patients with symptomatic neurogenic orthostatic hypotension caused by primary autonomic failure (Parkinson's disease, multiple system atrophy, and pure autonomic failure), dopamine beta-hydroxylase deficiency, and non-diabetic autonomic neuropathy.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Dopamine beta hydroxylase deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Dopamine beta hydroxylase deficiency. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dopamine beta hydroxylase deficiency. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Dopamine beta-hydroxylase deficiency. Genetics Home Reference; September, 2008; https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency.
  2. David Robertson, MD and Emily M Garland, PhD. Dopamine Beta-Hydroxylase Deficiency. GeneReviews; October 29, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1474/.