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| Tyrosinemia Classification and external resources |
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 |
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|---|---|
| Tyrosine | |
| ICD-10 | E70.2 |
| ICD-9 | 270.2 |
| OMIM | 276700 276600 276710 |
| DiseasesDB | 13478 13486 29836 |
| eMedicine | ped/2339 |
| MeSH | D020176 |
Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation.
Contents |
Types
There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.
Treatment
Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.
See also
Notes
For a thorough scientific overview of tyrosinemia, consult chapter 79 of OMMBID.[1]
External links
- University of Washington
- Pediatric Liver support group
- MSN tyrosinemia group * [1]
References
- ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - See also the OMMBID blog.
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Wikipedia content modification information:
- This page was last modified on 16 July 2008, at 12:39.
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