Overview
Disorders of fatty acid oxidation and ketogenesis are a group of rare inherited metabolic conditions. In healthy people, the body breaks down fats for energy — especially during fasting, illness, or exercise. This process, called fatty acid oxidation, also produces molecules called ketones, which the brain and muscles can use as fuel when blood sugar is low. In people with these disorders, one or more steps in this energy-producing process do not work properly because of a faulty gene. As a result, the body cannot make enough energy from fat, and harmful substances can build up in the blood and organs. These conditions can affect the heart, liver, muscles, and brain. Symptoms often appear during times of stress on the body — like a fever, infection, or going too long without eating. Common symptoms include low blood sugar (hypoglycemia), extreme tiredness, muscle weakness, and in severe cases, heart problems or liver damage. Some forms are detected through newborn screening programs before symptoms appear. Treatment focuses on preventing metabolic crises by avoiding fasting, following a special diet, and sometimes taking supplements like carnitine or riboflavin. With early diagnosis and careful management, many people with these disorders can live healthy, active lives. However, outcomes vary depending on which specific enzyme or gene is affected.
Key symptoms:
Low blood sugar (hypoglycemia), especially during fasting or illnessExtreme tiredness or lack of energyMuscle weakness or muscle painEnlarged or damaged liverHeart muscle problems (cardiomyopathy)Abnormal heart rhythmsNausea and vomitingConfusion or altered consciousnessSeizuresDevelopmental delays in some childrenSudden unexplained death in severe untreated casesAbnormal smell to urine or sweat in some typesPoor feeding in newborns
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 Disorder of fatty acid oxidation and ketogenesis.
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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 fatty acid oxidation and ketogenesis.
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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 fatty acid oxidation or ketogenesis disorder do I have, and what gene is affected?,What are my personal fasting limits, and what should I do if I cannot eat during an illness?,Do I need a special diet, and should I be taking any supplements like carnitine or MCT oil?,Should I have an emergency action plan, and what should I bring to the emergency room if I have a crisis?,Are there any heart, liver, or eye complications I should be monitored for regularly?,Is genetic counseling recommended for my family members, and should my siblings or children be tested?,Are there any clinical trials or new treatments I should know about?
Common questions about Disorder of fatty acid oxidation and ketogenesis
What is Disorder of fatty acid oxidation and ketogenesis?
Disorders of fatty acid oxidation and ketogenesis are a group of rare inherited metabolic conditions. In healthy people, the body breaks down fats for energy — especially during fasting, illness, or exercise. This process, called fatty acid oxidation, also produces molecules called ketones, which the brain and muscles can use as fuel when blood sugar is low. In people with these disorders, one or more steps in this energy-producing process do not work properly because of a faulty gene. As a result, the body cannot make enough energy from fat, and harmful substances can build up in the blood an
How is Disorder of fatty acid oxidation and ketogenesis inherited?
Disorder of fatty acid oxidation and ketogenesis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.