Tyrosinemia
| Tyrosinemia | |
|---|---|
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E70.2 |
| ICD-9-CM | 270.2 |
| OMIM | 276700 276600 276710 |
| DiseasesDB | 13478 13486 29836 |
| eMedicine | ped/2339 |
| Patient UK | Tyrosinemia |
| 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. Untreated, tyrosinemia can be fatal.
Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).[1]
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.
From the FDA ORFADIN is a 4-hydroxyphenylpyruvate dioxygenase inhibitor indicated for the treatment of hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine. http://www.accessdata.fda.gov/drugsatfda_docs/label/2016/206356s000lbl.pdf
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.
