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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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- Pyruvate carboxylase deficiency. Genetics Home Reference. August 2006; http://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency. Accessed 11/16/2011.
- 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
- Huntsman RJ, Sinclair DB, Bhargava R, Chan A. Atypical presentations of Leigh syndrome: A case series and review. Pediatr Neurol 2005;32:334-340.