Living with Pyruvate carboxylase deficiency
An inherited metabolic condition in which lactic acid builds up in the blood, mostly affecting the nervous system.
Understanding Pyruvate carboxylase deficiency
High levels can damage organs and tissues, especially in the nervous system. There are at least three types, which differ in severity. Type A starts in infancy with developmental delay and lactic acidosis. Type B shows up shortly after birth with severe lactic acidosis, high ammonia, liver problems, and neurological features. Type C is milder, with slightly raised lactic acid and few nervous system signs.
Signs & symptoms
Symptoms vary from person to person and by type. GARD lists these among the most common:
- Slow weight gain and slow growth
- Delays in development
- Seizures
- Vomiting and abdominal pain
- Extreme tiredness and muscle weakness
- Trouble breathing during acidosis episodes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the PC gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ataxia with lactic acidosis ii; ataxia with lactic acidosis type 2; ataxia with lactic acidosis type ii; deficiency of pyruvate carboxylase; deficiency of pyruvic carboxylase; leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Patient organizations
- United Mitochondrial Disease FoundationPyruvate carboxylase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Pyruvate carboxylase deficiency.
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