Overview
Ketoacidosis due to monocarboxylate transporter-1 (MCT1) deficiency is an extremely rare inherited metabolic disorder. It is caused by mutations in the SLC16A1 gene, which provides instructions for making a protein called MCT1. This protein is responsible for transporting important molecules called monocarboxylates — including ketone bodies, lactate, and pyruvate — across cell membranes. When MCT1 does not work properly, the body cannot efficiently move ketone bodies into cells where they are needed for energy, especially during times of fasting or illness. This leads to a dangerous buildup of ketone bodies in the blood, a condition known as ketoacidosis. Affected individuals, typically young children, can experience recurrent episodes of severe ketoacidosis, often triggered by fasting, infections, or other metabolic stresses. During these episodes, symptoms may include nausea, vomiting, rapid breathing, abdominal pain, lethargy, and in severe cases, coma. Between episodes, children may appear completely healthy. The condition can be life-threatening if not recognized and treated promptly. Treatment focuses on preventing and managing ketoacidotic episodes. This includes avoiding prolonged fasting, providing adequate carbohydrate intake during illness, and prompt intravenous fluids and glucose during acute episodes. With careful management and awareness of triggers, many patients can do well, but the risk of severe episodes requires ongoing vigilance throughout childhood and potentially into adulthood.
Key symptoms:
Recurrent episodes of ketoacidosisNausea and vomitingRapid or deep breathingAbdominal painExtreme tiredness or lethargyDehydrationFruity-smelling breathConfusion or altered consciousnessPoor feeding in infantsLow blood sugar during episodesFailure to thrive in some casesComa in severe episodes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Ketoacidosis due to monocarboxylate transporter-1 deficiency.
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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 Ketoacidosis due to monocarboxylate transporter-1 deficiency.
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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 are the specific triggers I should watch for that could cause a ketoacidotic episode?,How long can my child safely go without eating, and what should I do overnight?,What is the emergency protocol if my child starts vomiting and cannot keep food down?,Should my child wear a medical alert bracelet or carry an emergency letter?,Are there specific dietary guidelines or a meal plan we should follow?,Should other family members be tested for this genetic condition?,What are the long-term expectations for my child's health and development?
Common questions about Ketoacidosis due to monocarboxylate transporter-1 deficiency
What is Ketoacidosis due to monocarboxylate transporter-1 deficiency?
Ketoacidosis due to monocarboxylate transporter-1 (MCT1) deficiency is an extremely rare inherited metabolic disorder. It is caused by mutations in the SLC16A1 gene, which provides instructions for making a protein called MCT1. This protein is responsible for transporting important molecules called monocarboxylates — including ketone bodies, lactate, and pyruvate — across cell membranes. When MCT1 does not work properly, the body cannot efficiently move ketone bodies into cells where they are needed for energy, especially during times of fasting or illness. This leads to a dangerous buildup of
How is Ketoacidosis due to monocarboxylate transporter-1 deficiency inherited?
Ketoacidosis due to monocarboxylate transporter-1 deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ketoacidosis due to monocarboxylate transporter-1 deficiency typically begin?
Typical onset of Ketoacidosis due to monocarboxylate transporter-1 deficiency is infantile. Age of onset can vary across affected individuals.