Overview
Metabolic disease due to other fatty acid oxidation disorder refers to a group of rare inherited conditions where the body cannot properly break down fats (fatty acids) to use as energy. Normally, when you go without food for a while or during exercise, your body breaks down stored fat into energy. In people with these disorders, certain enzymes needed for this process are missing or do not work correctly. This means the body cannot efficiently convert fat into fuel, especially during times of fasting, illness, or physical stress. When fatty acids cannot be broken down properly, they can build up in the body and cause damage to organs such as the liver, heart, and muscles. At the same time, the body may run dangerously low on energy, leading to low blood sugar (hypoglycemia). Symptoms can range from mild to life-threatening and may include extreme tiredness, muscle weakness, poor feeding in infants, liver problems, and heart complications. Some individuals may experience episodes of metabolic crisis, which can be triggered by fasting, infections, or intense exercise. Treatment typically focuses on preventing metabolic crises through careful dietary management, avoiding prolonged fasting, and sometimes using special supplements like medium-chain triglyceride (MCT) oil or carnitine. Early diagnosis through newborn screening and ongoing management by a metabolic specialist can significantly improve outcomes. The specific type and severity of the disorder depends on which enzyme is affected.
Key symptoms:
Extreme tiredness and low energyMuscle weaknessLow blood sugar (hypoglycemia)Poor feeding in infantsLiver enlargement or liver problemsHeart muscle weakness (cardiomyopathy)Irregular heartbeatMuscle pain or cramping, especially with exerciseVomiting and nausea during illnessFailure to thrive in babiesDark-colored urine from muscle breakdownSeizures during metabolic crisisConfusion or lethargyBreathing difficulties
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventDojolvi: FDA approved
DOJOLVI is indicated as a source of calories and fatty acids for the treatment of pediatric and adult patients with molecularly confirmed long-chain fatty acid oxidation disorders (LC-FAOD).
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableDojolvi
DOJOLVI is indicated as a source of calories and fatty acids for the treatment of pediatric and adult patients with molecularly confirmed long-chain fatty acid oxidation disorders (LC-FAOD).
Clinical Trials
View all trials with filters →No actively recruiting trials found for Metabolic disease due to other fatty acid oxidation disorder at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Metabolic disease due to other fatty acid oxidation disorder.
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Metabolic disease due to other fatty acid oxidation disorder.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What specific type of fatty acid oxidation disorder does my child or I have, and which enzyme is affected?,How often should we eat, and what is the maximum safe fasting time?,What should our emergency protocol look like during illness, and can you provide a written plan?,Are there specific foods or types of fat we need to avoid?,How will this condition affect the heart, and how often should cardiac monitoring be done?,Is genetic testing recommended for other family members or for future family planning?,Are there any clinical trials or new treatments we should know about?
Common questions about Metabolic disease due to other fatty acid oxidation disorder
What is Metabolic disease due to other fatty acid oxidation disorder?
Metabolic disease due to other fatty acid oxidation disorder refers to a group of rare inherited conditions where the body cannot properly break down fats (fatty acids) to use as energy. Normally, when you go without food for a while or during exercise, your body breaks down stored fat into energy. In people with these disorders, certain enzymes needed for this process are missing or do not work correctly. This means the body cannot efficiently convert fat into fuel, especially during times of fasting, illness, or physical stress. When fatty acids cannot be broken down properly, they can buil
How is Metabolic disease due to other fatty acid oxidation disorder inherited?
Metabolic disease due to other fatty acid oxidation disorder follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
What treatment and support options exist for Metabolic disease due to other fatty acid oxidation disorder?
1 patient support program are currently tracked on UniteRare for Metabolic disease due to other fatty acid oxidation disorder. See the treatments and support programs sections for copay assistance, eligibility, and contact details.