Absence of increased succinylacetone in the urine of a child with hereditary tyrosinaemia type I
β Scribed by A. A. M. Haagen; M. Duran
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 203 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
Prenatal diagnosis of tyrosinaemia type I can be achieved in cultured amniotic cells and in chorionic villus material by testing the activity of fumarylacetoacetate hydrolase and by DNA analysis, and in amniotic fluid by succinylacetone measurement. This specific metabolite can be measured either by
Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal leve