Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.
A new fluorogenic substrate, 4 methylumbelliferyl beta-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one.
Zhao
H
H
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Van Diggelen
O P
OP
Thoomes
R
R
Huijmans
J
J
Young
E
E
Mazurczak
T
T
Kleijer
W J
WJ
D000653:Amniotic Fluid / Q000737:chemistry; D001921:Brain / Q000378:metabolism; D002478:Cells, Cultured / Q000378:metabolism; D002811:Chondroitinsulfatases / Q000378:metabolism; D015193:Chorionic Villi Sampling; D004796:Clinical Enzyme Tests / Q000379:methods*; D005260:Female; D005333:Fetus / Q000378:metabolism; D005456:Fluorescent Dyes; D005470:Fluorometry; D006801:Humans; D008099:Liver / Q000378:metabolism; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis*; D009132:Muscles / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013862:Thiogalactosides; D014468:Umbelliferones
D005456:Fluorescent Dyes; D013862:Thiogalactosides; D014468:Umbelliferones; C064253:4-methylumbelliferyl-6-thiogalactoside; D002811:Chondroitinsulfatases