Overview
Pyruvate carboxylase deficiency, benign type (also called Type A or North American type) is a rare inherited metabolic disorder. It is the mildest form of pyruvate carboxylase (PC) deficiency. Pyruvate carboxylase is an important enzyme that helps the body produce energy and make glucose (sugar) from non-sugar sources. It also plays a role in making certain building blocks needed by the brain and other organs. In the benign type, the enzyme still works partially, which means symptoms are milder compared to the more severe forms of this condition. Babies and young children with this condition may experience episodes of lactic acidosis, which means too much lactic acid builds up in the blood. These episodes can be triggered by illness, fasting, or stress. During these episodes, children may become very tired, breathe rapidly, vomit, or seem generally unwell. Between episodes, many children develop relatively normally, though some may have mild developmental delays or learning difficulties. The treatment landscape focuses on preventing and managing episodes of lactic acidosis. This typically involves dietary management, avoiding prolonged fasting, and sometimes supplementation with specific nutrients like citrate, aspartate, or biotin. With careful management, many individuals with the benign type of pyruvate carboxylase deficiency can have a much better outcome than those with the severe forms. Early diagnosis and consistent metabolic care are key to achieving the best possible results.
Also known as:
Key symptoms:
Episodes of high lactic acid in the blood (lactic acidosis)Rapid or heavy breathing during episodesVomitingPoor feeding in infancyLow energy or excessive tirednessMild developmental delaysMild learning difficultiesFailure to thrive in early childhoodLow blood sugar during illness or fastingMuscle weaknessIrritability during metabolic episodes
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 Pyruvate carboxylase deficiency, benign type.
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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
NORD Caregiver Resources
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Family & Caregiver Grants
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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 is my child's specific level of enzyme activity, and what does that mean for their outlook?,What should our emergency sick-day plan look like, and when should we go to the hospital?,Are there specific dietary supplements like citrate, aspartate, or biotin that could help my child?,How often should my child have blood tests to monitor lactic acid and other levels?,Will my child need extra support at school, and should we arrange developmental assessments?,What are the chances of having another child with this condition, and is prenatal testing available?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Pyruvate carboxylase deficiency, benign type
What is Pyruvate carboxylase deficiency, benign type?
Pyruvate carboxylase deficiency, benign type (also called Type A or North American type) is a rare inherited metabolic disorder. It is the mildest form of pyruvate carboxylase (PC) deficiency. Pyruvate carboxylase is an important enzyme that helps the body produce energy and make glucose (sugar) from non-sugar sources. It also plays a role in making certain building blocks needed by the brain and other organs. In the benign type, the enzyme still works partially, which means symptoms are milder compared to the more severe forms of this condition. Babies and young children with this condition
How is Pyruvate carboxylase deficiency, benign type inherited?
Pyruvate carboxylase deficiency, benign type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pyruvate carboxylase deficiency, benign type typically begin?
Typical onset of Pyruvate carboxylase deficiency, benign type is infantile. Age of onset can vary across affected individuals.