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Hereditary Tyrosinemia
Robert M. . Ed(S): Tanguay
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Description for Hereditary Tyrosinemia
Hardback. Editor(s): Tanguay, Robert M. Series: Advances in Experimental Medicine and Biology. Num Pages: 100 colour illustrations, biography. BIC Classification: PSBC. Category: (P) Professional & Vocational. Dimension: 254 x 178. .
Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment ... Read more
Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment ... Read more
Product Details
Format
Hardback
Publication date
2017
Publisher
Springer International Publishing AG Switzerland
Condition
New
Series
Advances in Experimental Medicine and Biology
Number of Pages
247
Place of Publication
Cham, Switzerland
ISBN
9783319557793
SKU
V9783319557793
Shipping Time
Usually ships in 15 to 20 working days
Ref
99-15
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