Overview
Dopamine beta-hydroxylase (DBH) deficiency is a very rare inherited condition that affects the nervous system's ability to regulate blood pressure and other automatic body functions. The body normally uses an enzyme called dopamine beta-hydroxylase to convert dopamine into norepinephrine, a chemical messenger that helps control heart rate, blood pressure, and the body's response to stress. In people with DBH deficiency, this enzyme is missing or does not work properly, so norepinephrine and epinephrine (adrenaline) cannot be made. This leads to a buildup of dopamine and a complete absence of norepinephrine in the body. The most noticeable effect is a severe drop in blood pressure when a person stands up, a problem called orthostatic hypotension. This can cause fainting, dizziness, and extreme tiredness. Symptoms often first appear in newborns as low blood pressure, low blood sugar, and difficulty regulating body temperature. As children grow, they may have drooping eyelids, nasal congestion, and reduced ability to exercise. Adults often struggle with daily activities due to persistent low blood pressure. The good news is that DBH deficiency can be treated effectively. A medication called droxidopa (also known as L-DOPS or Northera) replaces the missing norepinephrine and can dramatically improve symptoms. With proper treatment, many patients experience a significant improvement in quality of life. This condition is also sometimes called norepinephrine deficiency or DBH deficiency.
Also known as:
Key symptoms:
Severe drop in blood pressure when standing up (orthostatic hypotension)Fainting or near-fainting spellsExtreme tiredness and low energyDrooping eyelids (ptosis)Stuffy or runny nose (nasal congestion)Low blood sugar (hypoglycemia)Difficulty regulating body temperatureReduced ability to exerciseDelayed pubertyVomiting and feeding difficulties in newbornsMuscle weaknessDifficulty with erection in males
Clinical phenotype terms (28)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Dopamine beta-hydroxylase deficiency.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Dopamine beta-hydroxylase deficiency.
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1 articlesCaregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Is droxidopa (Northera) the right treatment for my situation, and how quickly might I see improvement?,What blood pressure readings should I be aiming for, and when should I seek emergency care?,Should my family members be tested for the DBH gene mutation?,Are there any activities or environments I should avoid to prevent dangerous drops in blood pressure?,How often do I need follow-up testing, and what should be monitored over time?,Are there any clinical trials or research studies I could participate in?,What dietary changes, such as increased salt or fluid intake, are recommended for my specific case?
Common questions about Dopamine beta-hydroxylase deficiency
What is Dopamine beta-hydroxylase deficiency?
Dopamine beta-hydroxylase (DBH) deficiency is a very rare inherited condition that affects the nervous system's ability to regulate blood pressure and other automatic body functions. The body normally uses an enzyme called dopamine beta-hydroxylase to convert dopamine into norepinephrine, a chemical messenger that helps control heart rate, blood pressure, and the body's response to stress. In people with DBH deficiency, this enzyme is missing or does not work properly, so norepinephrine and epinephrine (adrenaline) cannot be made. This leads to a buildup of dopamine and a complete absence of n
How is Dopamine beta-hydroxylase deficiency inherited?
Dopamine beta-hydroxylase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dopamine beta-hydroxylase deficiency typically begin?
Typical onset of Dopamine beta-hydroxylase deficiency is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Dopamine beta-hydroxylase deficiency?
25 specialists and care centers treating Dopamine beta-hydroxylase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.