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Genetic and Rare Diseases Information Center (GARD)

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Pyruvate carboxylase deficiency

Other Names for this Disease
  • Ataxia with lactic acidosis 2
  • Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
  • Leigh syndrome due to pyruvate carboxylase deficiency
  • PC deficiency
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Tests & Diagnosis

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  • 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 for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.