Overview
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy is an extremely rare inherited metabolic condition that affects how the body breaks down fats for energy and produces ketone bodies (an alternative fuel source the body uses during fasting or illness). In this disorder, the enzymes responsible for processing fatty acids do not work properly. This means the body cannot efficiently convert stored fat into energy, especially during times of stress such as fasting, illness, or prolonged exercise. A hallmark feature of this condition is dilated cardiomyopathy, where the heart muscle becomes stretched and weakened, making it harder for the heart to pump blood effectively. Patients may experience episodes of low blood sugar (hypoglycemia), extreme tiredness, muscle weakness, and heart problems that can range from mild to life-threatening. Symptoms often appear in infancy or early childhood, though the age of onset can vary. During metabolic crises — often triggered by fasting or infections — patients can become seriously ill very quickly. Treatment focuses on preventing metabolic crises through careful dietary management, avoiding prolonged fasting, and managing heart function with cardiac medications. There is currently no cure, but early diagnosis and consistent management can significantly improve outcomes. A team of metabolic specialists and cardiologists typically guides care for affected individuals.
Key symptoms:
Enlarged and weakened heart (dilated cardiomyopathy)Low blood sugar (hypoglycemia)Extreme tiredness and low energyMuscle weaknessPoor feeding in infantsFailure to thrive or poor weight gainLiver enlargementEpisodes of metabolic crisis during illness or fastingShortness of breathSwelling in the legs or abdomen from heart failureAbnormal heart rhythmElevated levels of certain fats in the bloodLethargy or excessive sleepiness
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
Treatments
No FDA-approved treatments are currently listed for Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy.
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Specialists
View all specialists →No specialists are currently listed for Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy.
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
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Caregiver Resources
NORD Caregiver Resources
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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.What specific type of fatty acid oxidation or ketogenesis defect does my child have?,How often should we have heart function checked with an echocardiogram?,What is the emergency protocol if my child becomes sick or cannot eat?,Are there specific foods or fats we need to avoid, and should we use MCT oil?,How long can my child safely go without eating, and do we need overnight feeds?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
What is Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy?
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy is an extremely rare inherited metabolic condition that affects how the body breaks down fats for energy and produces ketone bodies (an alternative fuel source the body uses during fasting or illness). In this disorder, the enzymes responsible for processing fatty acids do not work properly. This means the body cannot efficiently convert stored fat into energy, especially during times of stress such as fasting, illness, or prolonged exercise. A hallmark feature of this condition is dilated cardiomyopathy, where the heart
How is Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy inherited?
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.