Overview
Disorder of ketone body transport is an extremely rare inherited metabolic condition that affects how the body moves ketone bodies into and out of cells. Ketone bodies are small molecules that the liver produces from fat when the body needs an alternative energy source, such as during fasting, illness, or prolonged exercise. Normally, ketone bodies travel through the bloodstream and are taken up by tissues like the brain, heart, and muscles to be used as fuel. In this disorder, the transport system that moves ketone bodies across cell membranes does not work properly. This means that even though the body may produce ketone bodies normally, the cells that need them cannot efficiently take them up or release them as needed. Because this condition is so rare, the full range of symptoms is not well characterized. However, affected individuals may experience episodes of metabolic crisis, particularly during times of fasting or illness, when the body relies more heavily on ketone bodies for energy. Symptoms can include vomiting, lethargy, low blood sugar, and a buildup of ketones in the blood (ketoacidosis) or an inability to appropriately use ketones. The brain is especially vulnerable because it depends on ketone bodies as a backup fuel source when glucose is limited. Treatment is largely supportive and focuses on preventing metabolic crises by avoiding prolonged fasting and managing illness carefully. Because so few cases have been described, the treatment landscape is still evolving, and management is typically guided by metabolic specialists on a case-by-case basis.
Key symptoms:
Episodes of vomitingExtreme tiredness or lethargyLow blood sugar (hypoglycemia)Buildup of acid in the blood (metabolic acidosis)High levels of ketones in the blood or urinePoor feeding in infantsIrritabilityConfusion or altered consciousness during illnessFailure to thrive or poor weight gainSeizures during metabolic crises
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)
FDA & Trial Timeline
1 eventAnthim: FDA approved
Treatment of adult and pediatric patients with inhalational anthrax due to Bacillus anthracis in combination with appropriate antibacterial drugs and for prophylaxis of inhalational anthrax due to B. anthracis when alternative therapies are not available or are not appropriate.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of keton body transport.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Disorder of keton body transport.
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 resourcesAnthim
Elusys Therapeutics, Inc.
Anthim — Contact Elusys Therapeutics, Inc.
Travel Grants
No travel grants are currently matched to Disorder of keton body transport.
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 genetic change is causing this condition in my child?,How often should my child eat to prevent metabolic crises?,What is the emergency plan if my child becomes sick or cannot eat?,Should my child wear a medical alert bracelet?,Are there any foods or situations we should specifically avoid?,How will this condition be monitored over time, and what tests are needed?,Should other family members be tested for this condition?
Common questions about Disorder of keton body transport
What is Disorder of keton body transport?
Disorder of ketone body transport is an extremely rare inherited metabolic condition that affects how the body moves ketone bodies into and out of cells. Ketone bodies are small molecules that the liver produces from fat when the body needs an alternative energy source, such as during fasting, illness, or prolonged exercise. Normally, ketone bodies travel through the bloodstream and are taken up by tissues like the brain, heart, and muscles to be used as fuel. In this disorder, the transport system that moves ketone bodies across cell membranes does not work properly. This means that even thou
How is Disorder of keton body transport inherited?
Disorder of keton body transport follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of keton body transport typically begin?
Typical onset of Disorder of keton body transport is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Disorder of keton body transport?
1 patient support program are currently tracked on UniteRare for Disorder of keton body transport. See the treatments and support programs sections for copay assistance, eligibility, and contact details.