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Diseases

Genetic and Rare Diseases Information Center (GARD)

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

On this page

Testing

  • 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.

Newborn Screening

  • 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.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.