Overview
Pyruvate carboxylase deficiency, infantile type (also called Type B or severe neonatal form) is a very rare inherited metabolic disorder that affects how the body produces energy and builds important molecules. Pyruvate carboxylase is an enzyme found in the mitochondria (the energy factories inside cells) that plays a critical role in making glucose (blood sugar), producing energy, and building fats needed for brain development. When this enzyme does not work properly, toxic substances build up in the blood and the body cannot make enough energy to support normal organ function. The infantile (Type B) form is the most severe type of pyruvate carboxylase deficiency. Babies typically become very sick within the first few days to months of life. Common symptoms include severe lactic acidosis (too much acid in the blood), low blood sugar, failure to thrive, seizures, abnormal muscle tone, and progressive brain damage. Affected infants often have an enlarged liver and may develop kidney problems. The brain is especially vulnerable, and many babies develop structural brain abnormalities. Unfortunately, there is currently no cure for this condition. Treatment is mainly supportive and focuses on managing symptoms such as correcting acid levels in the blood, preventing low blood sugar, controlling seizures, and providing nutritional support. Despite treatment, the prognosis for the infantile type is very poor, and most affected children do not survive beyond early childhood. Research is ongoing to better understand this disease and explore potential new therapies.
Also known as:
Key symptoms:
Severe buildup of acid in the blood (lactic acidosis)Very low blood sugar (hypoglycemia)SeizuresPoor feeding and failure to gain weightFloppy or weak muscles (hypotonia)Abnormal movements or stiffnessEnlarged liverDevelopmental delay or regressionBreathing difficultiesLethargy or excessive sleepinessKidney problemsBrain abnormalities visible on imagingEpisodes of metabolic crisisPoor head growth (microcephaly)Intellectual disability
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)
Treatments
No FDA-approved treatments are currently listed for Pyruvate carboxylase deficiency, infantile 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
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of pyruvate carboxylase deficiency does my child have, and what does this mean for their outlook?,What treatments are available to help manage my child's symptoms?,What are the signs of a metabolic crisis, and what should I do if one occurs?,Are there any clinical trials or experimental treatments we should consider?,What support services are available for our family, including palliative care?,Should other family members be tested as carriers of this condition?,What does genetic counseling involve, and how can it help with future family planning?
Common questions about Pyruvate carboxylase deficiency, infantile type
What is Pyruvate carboxylase deficiency, infantile type?
Pyruvate carboxylase deficiency, infantile type (also called Type B or severe neonatal form) is a very rare inherited metabolic disorder that affects how the body produces energy and builds important molecules. Pyruvate carboxylase is an enzyme found in the mitochondria (the energy factories inside cells) that plays a critical role in making glucose (blood sugar), producing energy, and building fats needed for brain development. When this enzyme does not work properly, toxic substances build up in the blood and the body cannot make enough energy to support normal organ function. The infantile
How is Pyruvate carboxylase deficiency, infantile type inherited?
Pyruvate carboxylase deficiency, infantile 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, infantile type typically begin?
Typical onset of Pyruvate carboxylase deficiency, infantile type is neonatal. Age of onset can vary across affected individuals.