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Genetic and Rare Diseases Information Center (GARD)

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Hyperlysinemia


Other Names for this Disease
  • Alpha-aminoadipic semialdehyde synthase deficiency
  • Hyperlysinemia type I
  • L-lysine NAD-oxido-reductase deficiency
  • Lysine alpha-ketoglutarate reductase deficiency
  • Lysine intolerance
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Overview

Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. Hyperlysinemia is caused by mutations in the AASS gene. It has an autosomal recessive pattern of inheritance.[1][2]
Last updated: 1/28/2013

References

  1. Hyperlysinemia. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition=hyperlysinemia. Accessed 1/28/2013.
  2. Hyper LYS - Hyperlysinemia . Newborn Screening Coding and Terminology Guide. April 2011; http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hyper-LYS. Accessed 1/28/2013.
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Basic Information

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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 Hyperlysinemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Alpha-aminoadipic semialdehyde synthase deficiency
  • Hyperlysinemia type I
  • L-lysine NAD-oxido-reductase deficiency
  • Lysine alpha-ketoglutarate reductase deficiency
  • Lysine intolerance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.