tyrosinemia
Sign in to saveTyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms of untreated tyrosinemia include liver and kidney disturbances. Without treatment, tyrosinemia leads to liver failure. Today, tyrosinemia is increasingly detected on newborn screening tests before any symptoms appear. With early and lifelong management involving a low-protein diet, special protein formula, and sometimes medication, people with tyrosinemia develop normally, are healthy, and live normal lives.
Key facts
- Medical condition (new).name
- Tyrosinemia
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- L-tyrosine-skeletal.png
- Medical condition (new).caption
- Tyrosine
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- 180px
via Wikipedia infobox
Research
1,562 papers- Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.Genetics in medicine : official journal of the American College of Medical Genetics · 2017
- Hepatorenal tyrosinemia.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2012
- Tyrosinemia: a review.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society · 2001
- TYROSINEMIA.The Journal of pediatrics · 1965
- Hereditary Tyrosinemia Type 1 in Turkey.Advances in experimental medicine and biology · 2017
via PubMed
Article
8 sectionsContents
- Signs and symptoms
- Cause
- Diagnosis
- Types
- Treatment
- See also
- References
- External links
Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms of untreated tyrosinemia include liver and kidney disturbances. Without treatment, tyrosinemia leads to liver failure. Today, tyrosinemia is increasingly detected on newborn screening tests before any symptoms appear. With early and lifelong management involving a low-protein diet, special protein formula, and sometimes medication, people with tyrosinemia develop normally, are healthy, and live normal lives.
==Signs and symptoms==