Pyruvate carboxylase deficiency
Other Names for this Disease
- PC deficiency
- Ataxia with lactic acidosis 2
- Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
- Leigh syndrome due to pyruvate carboxylase deficiency
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Tests & Diagnosis
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.