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Tyrosinemia type 2


Other Names for this Disease

  • Keratosis palmoplantaris with corneal dystrophy
  • Oculocutaneous tyrosinemia
  • Oregon type tyrosinemia
  • Richner Hanhart syndrome
  • TAT deficiency
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Overview

Tyrosinemia type 2 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme tyrosine aminotransferase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the TAT gene. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About 50 percent of individuals with tyrosinemia type 2 have some degree of intellectual disability. This condition is inherited in an autosomal recessive manner.[1]
Last updated: 2/3/2010

References

  1. Tyrosinemia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=tyrosinemia. Accessed 2/3/2010.
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  • 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 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 Tyrosinemia type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Keratosis palmoplantaris with corneal dystrophy
  • Oculocutaneous tyrosinemia
  • Oregon type tyrosinemia
  • Richner Hanhart syndrome
  • TAT deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.