Tyrosinemia
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| Tyrosinemia Classification and external resources | |
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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 |
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Ongoing Trials on Tyrosinemia at Clinical Trials.gov Clinical Trials on Tyrosinemia at Google
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US National Guidelines Clearinghouse on Tyrosinemia
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Patient resources on Tyrosinemia Discussion groups on Tyrosinemia Patient Handouts on Tyrosinemia Directions to Hospitals Treating Tyrosinemia Risk calculators and risk factors for Tyrosinemia
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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
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.
External links
WikiDoc Research Resources for Tyrosinemia | |
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| Articles on Tyrosinemia | Most recent articles on Tyrosinemia • Most cited articles on Tyrosinemia • Review articles on Tyrosinemia • Articles on Tyrosinemia in N Eng J Med, Lancet, BMJ |
| Media (Slides, Video, Images, MP3) on Tyrosinemia | Powerpoint slides on Tyrosinemia • Images of Tyrosinemia • Photos of Tyrosinemia • Podcasts & MP3s on Tyrosinemia • Videos on Tyrosinemia |
| Evidence Based Medicine Regarding Tyrosinemia | Cochrane Collaboration on Tyrosinemia • Bandolier on Tyrosinemia • TRIP on Tyrosinemia |
| Cost Effectiveness of Tyrosinemia | Cost Effectiveness of Tyrosinemia |
| Clinical Trials Involving Tyrosinemia | Ongoing Trials on Tyrosinemia at Clinical Trials.gov • Trial results on Tyrosinemia • Clinical Trials on Tyrosinemia at Google |
| Guidelines / Policies / Government Resources (FDA/CDC) Regarding Tyrosinemia | US National Guidelines Clearinghouse on Tyrosinemia • NICE Guidance on Tyrosinemia • NHS PRODIGY Guidance • FDA on Tyrosinemia • CDC on Tyrosinemia |
| Textbook Information on Tyrosinemia | Books and Textbook Information on Tyrosinemia |
| Pharmacology Resources on Tyrosinemia | Dosing of Tyrosinemia • Drug interactions with Tyrosinemia • Side effects of Tyrosinemia • Allergic reactions to Tyrosinemia • Overdose information on Tyrosinemia • Carcinogenicity information on Tyrosinemia • Tyrosinemia in pregnancy • Pharmacokinetics of Tyrosinemia • |
| Genetics, Pharmacogenomics, and Proteinomics of Tyrosinemia | Genetics of Tyrosinemia • Pharmacogenomics of Tyrosinemia • Proteomics of Tyrosinemia |
| Newstories on Tyrosinemia | Tyrosinemia in the news • Be alerted to news on Tyrosinemia • News trends on Tyrosinemia |
| Commentary on Tyrosinemia | Blogs on Tyrosinemia |
| Patient Resources on Tyrosinemia | Patient resources on Tyrosinemia • Discussion groups on Tyrosinemia • Patient Handouts on Tyrosinemia • Directions to Hospitals Treating Tyrosinemia • Risk calculators and risk factors for Tyrosinemia |
| Healthcare Provider Resources on Tyrosinemia | Symptoms of Tyrosinemia • Causes & Risk Factors for Tyrosinemia • Diagnostic studies for Tyrosinemia • Treatment of Tyrosinemia |
| Continuing Medical Education (CME) Programs on Tyrosinemia | CME Programs on Tyrosinemia |
| International Resources on Tyrosinemia | Tyrosinemia en Espanol • Tyrosinemia en Francais |
| Business Resources on Tyrosinemia | Tyrosinemia in the Marketplace • Patents on Tyrosinemia |
| Informatics Resources on Tyrosinemia | List of terms related to Tyrosinemia |
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
