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  • Title: Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.
    Author: Poudrier J, Lettre F, St-Louis M, Tanguay RM.
    Journal: Prenat Diagn; 1999 Jan; 19(1):61-3. PubMed ID: 10073910.
    Abstract:
    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 level of succinylacetone in amniotic fluid has recently been described (Grenier et al., 1996). Here, we report that this patient is a compound heterozygote for two known mutations: E364X and IVS6-1g-->t. The low level of succinylacetone cannot be explained by these mutations.
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