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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]
References
- Pyruvate carboxylase deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency. Accessed November 16, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Pyruvate carboxylase deficiency have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Pyruvate carboxylase deficiency. Click on the link to go to GHR and review the 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 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pyruvate carboxylase deficiency. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Huntsman RJ, Sinclair DB, Bhargava R, Chan A. Atypical presentations of Leigh syndrome: A case series and review. Pediatr Neurol 2005;32:334-340.