Overview
Mitochondrial pyruvate carrier deficiency (also sometimes called MPC deficiency) is a very rare inherited metabolic disorder. It affects how the body's cells produce energy. Inside each cell, tiny structures called mitochondria act like power plants. To make energy, they need a fuel called pyruvate, which comes from breaking down sugars and some amino acids. A special protein called the mitochondrial pyruvate carrier (MPC) acts like a doorway, moving pyruvate into the mitochondria. When this carrier does not work properly, pyruvate cannot get inside, and the mitochondria cannot make energy efficiently. This leads to a buildup of pyruvate and related chemicals like lactate in the blood. The disease mainly affects the brain and nervous system, because the brain relies heavily on this energy pathway. Babies and young children with MPC deficiency often show signs of brain development problems, including intellectual disability, movement difficulties, and seizures. Blood tests typically show high levels of lactate, which is a key clue for doctors. The liver may also be affected in some cases. There is currently no cure for MPC deficiency. Treatment focuses on managing symptoms and trying to support energy production through dietary changes and supplements. Because this condition is so rare, treatment approaches are still being studied, and care is highly individualized. Early diagnosis and specialist support can help improve quality of life for affected children and their families.
Key symptoms:
High levels of lactic acid in the blood (lactic acidosis)Intellectual disability or developmental delaySeizuresWeak muscle tone (hypotonia)Difficulty with movement and coordinationDelayed speech and language developmentLiver enlargement (hepatomegaly)Poor feeding in infancyAbnormal brain structure seen on MRIElevated pyruvate levels in blood
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Mitochondrial pyruvate carrier 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
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Which genes were found to be affected in my child, and what does that mean for their specific outlook?,Should my child try a ketogenic diet, and how would we safely start and monitor it?,What supplements, if any, are recommended for my child's specific situation?,What is our emergency plan if my child becomes very ill or stops eating?,Are there any clinical trials or research studies we should know about?,What therapies — such as physical, occupational, or speech therapy — would benefit my child most right now?,Should other family members be tested for this condition?
Common questions about Mitochondrial pyruvate carrier deficiency
What is Mitochondrial pyruvate carrier deficiency?
Mitochondrial pyruvate carrier deficiency (also sometimes called MPC deficiency) is a very rare inherited metabolic disorder. It affects how the body's cells produce energy. Inside each cell, tiny structures called mitochondria act like power plants. To make energy, they need a fuel called pyruvate, which comes from breaking down sugars and some amino acids. A special protein called the mitochondrial pyruvate carrier (MPC) acts like a doorway, moving pyruvate into the mitochondria. When this carrier does not work properly, pyruvate cannot get inside, and the mitochondria cannot make energy eff
How is Mitochondrial pyruvate carrier deficiency inherited?
Mitochondrial pyruvate carrier deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mitochondrial pyruvate carrier deficiency typically begin?
Typical onset of Mitochondrial pyruvate carrier deficiency is infantile. Age of onset can vary across affected individuals.