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A CASE OF TYROSINAEMIA TYPE I WITH NORMAL LEVEL OF SUCCINYLACETONE IN THE AMNIOTIC FLUID

✍ Scribed by A. GRENIER; S. CEDERBAUM; C. LABERGE; R. GAGNÉ; C. JAKOBS; R. M. TANGUAY

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
333 KB
Volume
16
Category
Article
ISSN
0197-3851

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✦ Synopsis

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 gas chromatography-mass spectrometry or by 6-aminolevulinate dehydratase inhibition assay. In a series of 65 at-risk cases tested with the enzyme inhibition assay, one case out of the 18 with the disease had a normal level of succinylacetone. This case is presented .

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