Tyrosinemia: Difference between revisions
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'''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. | '''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. | ||
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{{Amino acid metabolic pathology}} | {{Amino acid metabolic pathology}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Revision as of 17:10, 20 August 2012
| Tyrosinemia | |
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| Tyrosine | |
| ICD-10 | E70.2 |
| ICD-9 | 270.2 |
| OMIM | 276700 276600 276710 |
| DiseasesDB | 13478 Template:DiseasesDB2 Template:DiseasesDB2 |
| eMedicine | ped/2339 |
| MeSH | D020176 |
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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.
Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).[1]
Types
File:Autorecessive.svg 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
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. Chapter 79. New York: McGraw-Hill.