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A CASE OF TYROSINAEMIA TYPE I WITH NORMAL LEVEL OF SUCCINYLACETONE IN THE AMNIOTIC FLUID
Author(s) -
GRENIER A.,
CEDERBAUM S.,
LABERGE C.,
GAGNÉ R.,
JAKOBS C.,
TANGUAY R. M.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199603)16:3<239::aid-pd829>3.0.co;2-w
Subject(s) - amniotic fluid , tyrosinemia , chemistry , metabolite , prenatal diagnosis , enzyme , chorionic villus sampling , biochemistry , fetus , chromatography , pregnancy , biology , tyrosine , genetics
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 |gd‐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.