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Genetic and Rare Diseases Information Center (GARD)

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Lysinuric protein intolerance


Other Names for this Disease

  • Dibasicamino aciduria II
  • LPI
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

Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. Other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. Symptoms usually develop after infants are weaned and begin to eat solid foods. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. It is inherited in an autosomal recessive manner.[1]
Last updated: 11/15/2010

References

  1. Lysinuric protein intolerance. Genetics Home Reference (GHR). March 2008; http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance. Accessed 11/15/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Lysinuric protein intolerance. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a 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 Lysinuric protein intolerance. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Dibasicamino aciduria II
  • LPI
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.