A case of tyrosinaemia type I with normal level of succinylacetone in the amniotic fluid.
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 delta-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.
Grenier
A
A
Le Centre Hospitalier, l'Université Laval, Ste-Foy, Province de Québec,Canada.
Cederbaum
S
S
Laberge
C
C
Gagné
R
R
Jakobs
C
C
Tanguay
R M
RM
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000737:chemistry*; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D004791:Enzyme Inhibitors / Q000032:analysis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D006537:Heptanoates / Q000032:analysis*; D006801:Humans; D008297:Male; D011237:Predictive Value of Tests; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D014443:Tyrosine / Q000378:metabolism*
D004791:Enzyme Inhibitors; D006537:Heptanoates; D014443:Tyrosine; C020804:succinylacetone