Tyrosinemia
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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| 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 |
Overview
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]
Historical Perspective
Classification
File:Autorecessive.svg There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.
Pathophysiology
Causes
Differentiating Tyrosinemia from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
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.
Medical Therapy
Surgery
Prevention
See also
External links
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.