Screen LibraryHereditary Tyrosinemia : Pathogenesis, Screening and Management /
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 de...
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| Published: |
Springer International Publishing : Imprint: Springer,
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| Publisher Address: | Cham : |
| Publication Dates: | 2017. |
| Literature type: | eBook |
| Language: | English |
| Series: |
Advances in Experimental Medicine and Biology,
959 |
| Subjects: | |
| Online Access: |
http://dx.doi.org/10.1007/978-3-319-55780-9 |
| Summary: |
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. Tr |
| Carrier Form: | 1 online resource(XV,247pages): illustrations. |
| ISBN: | 9783319557809 |
| Index Number: | QD431 |
| CLC: | Q343.2 |
| Contents: | Section I: Tyrosinemia Type 1: Heredity -- Section II:The Molecular Basis of HTI -- Section III: Pathology -- Section IV: Screening, Management and The Future. |