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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypertryptophanemia


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Overview

Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior).[1][2][3] The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner.[2] Treatment is based on the signs and symptoms present in each person.
Last updated: 1/13/2016

References

  1. Martin JR, Mellor CS, Fraser FC. Familial hypertryptophanemia in two siblings. Clin Genet. April 1995; 47(4):180-183.
  2. Hypertryptophanemia. Orphanet. June 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2224.
  3. HYPERTRYPTOPHANEMIA, FAMILIAL. OMIM. September 2014; http://www.omim.org/entry/600627.
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In Depth Information

  • 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 Hypertryptophanemia. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.