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Diseases

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

Overview

What is pyruvate carboxylase deficiency?

How is pyruvate carboxylase deficiency inherited?

What is pyruvate carboxylase deficiency?

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.[1]
Last updated: 11/16/2011

How is pyruvate carboxylase deficiency inherited?

Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner.[2] This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected.

De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition.[3] This means that in some cases, an affected individual may have only one parent who is a carrier for the condition.

Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known.[3] Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional.
Last updated: 3/20/2013

References
  1. Pyruvate carboxylase deficiency. Genetics Home Reference. August 2006; http://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency. Accessed 11/16/2011.
  2. Pyruvate carboxylase deficiency. Genetics Home Reference. August 2006; http://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency. Accessed 3/20/2013.
  3. Dong Wang and Darryl De Vivo. Pyruvate Carboxylase Deficiency. GeneReviews. July 21, 2011; http://www.ncbi.nlm.nih.gov/books/NBK6852/. Accessed 3/20/2013.


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