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Absence of increased succinylacetone in the urine of a child with hereditary tyrosinaemia type I

✍ 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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πŸ“œ SIMILAR VOLUMES


A CASE OF TYROSINAEMIA TYPE I WITH NORMA
✍ A. GRENIER; S. CEDERBAUM; C. LABERGE; R. GAGNΓ‰; C. JAKOBS; R. M. TANGUAY πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 333 KB πŸ‘ 1 views

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

Genotyping of a case of tyrosinaemia typ
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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