Overview
Disorder of catecholamine synthesis is a group of rare inherited conditions that affect the body's ability to make catecholamines — important chemical messengers that include dopamine, norepinephrine (noradrenaline), and epinephrine (adrenaline). These chemicals play a vital role in brain function, movement control, blood pressure regulation, and the body's stress response. When the enzymes needed to produce these chemicals are missing or not working properly, it leads to a range of neurological and developmental problems. Symptoms typically begin in infancy or early childhood and can include movement difficulties, low muscle tone, developmental delays, episodes of abnormal eye movements, and problems with blood pressure and body temperature regulation. Some children may experience seizure-like episodes or have trouble with coordination and balance. The severity varies widely depending on which specific enzyme in the catecholamine pathway is affected. Treatment depends on the exact type of deficiency and may include medications that replace or boost the missing chemicals, such as L-DOPA (levodopa), carbidopa, or other dopamine-related drugs. Some patients respond very well to treatment, especially if diagnosed early, while others may have a more limited response. Early diagnosis through genetic testing and specialized urine or blood tests is important for the best possible outcomes. This group of disorders is also sometimes referred to as catecholamine biosynthesis defects or neurotransmitter disorders involving catecholamines.
Key symptoms:
Low muscle tone (floppiness)Movement difficulties and stiffnessDevelopmental delaysDifficulty walking or delayed walkingAbnormal eye movements or drooping eyelidsEpisodes of excessive sweatingProblems with blood pressure regulationTemperature instabilityTremor or involuntary movementsSeizure-like episodesDifficulty swallowing or feeding problemsFatigue and low energyMood changes or irritabilityNasal congestion or stuffy noseSymptoms that worsen later in the day
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Disorder of catecholamine synthesis.
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Specialists
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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 Disorder of catecholamine synthesis.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific enzyme or gene is affected in my child's case, and what does that mean for treatment options?,How will we monitor whether the treatment is working, and how often will we need follow-up testing?,What are the possible side effects of the medications, and what should I watch for at home?,Is gene therapy an option for my child's specific type of catecholamine synthesis disorder?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any dietary changes or supplements that could help?,What should I do if my child becomes sick with a fever or infection — do medication doses need to change?
Common questions about Disorder of catecholamine synthesis
What is Disorder of catecholamine synthesis?
Disorder of catecholamine synthesis is a group of rare inherited conditions that affect the body's ability to make catecholamines — important chemical messengers that include dopamine, norepinephrine (noradrenaline), and epinephrine (adrenaline). These chemicals play a vital role in brain function, movement control, blood pressure regulation, and the body's stress response. When the enzymes needed to produce these chemicals are missing or not working properly, it leads to a range of neurological and developmental problems. Symptoms typically begin in infancy or early childhood and can include
How is Disorder of catecholamine synthesis inherited?
Disorder of catecholamine synthesis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of catecholamine synthesis typically begin?
Typical onset of Disorder of catecholamine synthesis is infantile. Age of onset can vary across affected individuals.