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Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid

✍ Scribed by Jacques Poudrier; Francine Lettre; Maryse St-Louis; Robert M. Tanguay

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 161 KB
Volume: 19
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-#

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✦ Synopsis

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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