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Genetic and Rare Diseases Information Center (GARD)

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Hyperpipecolatemia


Other Names for this Disease

  • Hyperpipecolic acidemia
  • Pipecolic acidemia
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Overview

Hyperpipecolatemia refers to the presence of abnormally high levels of pipecolic acid in the blood. It has been debated whether hyperpipecolatemia is generally a symptom of other known peroxisome biogenesis disorders (PBDs), a group of diseases caused by defective assembly of peroxisomes in cells (compartments that contain enzymes needed to break down many different substances). Although this is often the case, in some cases it is considered to be a separate disease entity that falls under the category of PBDs.[1] Additionally, elevations in pipecolic acid can also occur in pyridoxine-dependent epilepsy and in individuals with general psychomotor delay.[2] Signs and symptoms may vary widely in nature and severity depending on the underlying cause of the condition. When it is a feature of a PBD or pyridoxine-dependent epilepsy, it is inherited in an autosomal recessive manner.[1][2][3]
Last updated: 7/26/2011

References

  1. Al-Essa MA, Chaves-Carballo E, Ozand PT. Hyperpipecolic acidemia: Clinical, biochemical, and radiologic observations. Pediatr Neurol. 1999; 21:826-829.
  2. Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. January 18, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1448/. Accessed 7/26/2011.
  3. Pyridoxine-dependent epilepsy. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy. Accessed 7/26/2011.
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Basic Information

In Depth Information

  • 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 Hyperpipecolatemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyperpipecolic acidemia
  • Pipecolic acidemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.