Other Names for this Disease
- Lysine alpha-ketoglutarate reductase deficiency
- Alpha-aminoadipic semialdehyde synthase deficiency
- L-lysine NAD-oxido-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.
intellectual disability or behavioral problems. Hyperlysinemia is caused by mutations in the AASS gene. It has an autosomal recessive pattern of inheritance.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
Last updated: 1/28/2013
- Hyperlysinemia. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition=hyperlysinemia. Accessed 1/28/2013.
- 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.
- Genetics Home Reference (GHR) contains information on Hyperlysinemia. This website is maintained by the National Library of Medicine.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.