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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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Overview


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

References

  1. Pyruvate carboxylase deficiency. Genetics Home Reference. August 2006; http://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency. Accessed 11/16/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pyruvate carboxylase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Neuromuscular Disease Center at Washington University provides information about Leigh syndrome.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pyruvate carboxylase deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles