Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the extent cannot completely break down the amino rough tyrosine. Symptoms include liver and reins disturbances and intellectual retardation. Untreated, tyrosinemia can be deadly.
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Tyrosinemia type I is a uncommon autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needful for the end destroy down of the amino rough tyrosine. Failure to rightly break down Tyr direction to anomalistic accumulation of Tyr and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central spirited system. Symptoms and material findings combined with tyrosinemia type I appear in the first months of world and include failure to cheap importance and grow at the expected valuation (deterioration to boom), fever, flux, vomiting, an abnormally enlarged liver (hepatomegaly), and yellowing of the epidermatous and the whites of the view (jaundice). Tyrosinemia semblance I may progress to more serious complications such as satirical liver disease, cirrhosis, and hepatocarcinoma if port untreated. Treatment with nitisinone and a flame-tyrosine diet should enter as quick as possible after the diagnosis is fix.
This is an difficult of a report from the National Organization for Rare Disorders (NORD). A copy of the completed detail can be downloaded free from the NORD website for chronicle users. The complete report contains additional message including symptoms, suit, affected population, related distemper, flag and investigational therapies (if available), and references from medical belles-lettres. For a full-text ver. of this topic, go to www.rarediseases.org and catch on Rare Disease Database under "Rare Disease Information".
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For a Complete Report: This is an abstract of a report from the National Organization for Rare Disorders (NORD). A transcript of the entire report can be copy liberated from the NORD website for registered users. The complete report contains additional notice contain symptoms, causes, affected population, related disarrangement, average and investigational therapies (if available), and references from medicinal science. For a full-text ver. of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Tyrosinemia type I is a uncommon autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needful for the end destroy down of the amino rough tyrosine. Failure to rightly break down Tyr direction to anomalistic accumulation of Tyr and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central spirited system. Symptoms and material findings combined with tyrosinemia type I appear in the first months of world and include failure to cheap importance and grow at the expected valuation (deterioration to boom), fever, flux, vomiting, an abnormally enlarged liver (hepatomegaly), and yellowing of the epidermatous and the whites of the view (jaundice). Tyrosinemia semblance I may progress to more serious complications such as satirical liver disease, cirrhosis, and hepatocarcinoma if port untreated. Treatment with nitisinone and a flame-tyrosine diet should enter as quick as possible after the diagnosis is fix.
This is an difficult of a report from the National Organization for Rare Disorders (NORD). A copy of the completed detail can be downloaded free from the NORD website for chronicle users. The complete report contains additional message including symptoms, suit, affected population, related distemper, flag and investigational therapies (if available), and references from medical belles-lettres. For a full-text ver. of this topic, go to www.rarediseases.org and catch on Rare Disease Database under "Rare Disease Information".
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For a Complete Report: This is an abstract of a report from the National Organization for Rare Disorders (NORD). A transcript of the entire report can be copy liberated from the NORD website for registered users. The complete report contains additional notice contain symptoms, causes, affected population, related disarrangement, average and investigational therapies (if available), and references from medicinal science. For a full-text ver. of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Reference
Tyrosinemia, Hereditary. Retrieved on September 30, 2013, from http://children.webmd.com/tyrosinemia-hereditary.
Tyrosinemia, Type II | Hereditary Ocular Diseases. (2013). Retrieved on September 30, 2013, from http://disorders.eyes.arizona.edu/disorders/tyrosinemia-type-ii.
Tyrosinemia. (2013). Retrieved on September 30, 2013, from http://en.wikipedia.org/wiki/Tyrosinemia.
