Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay

1 February 1990

journal article
research article
Published by Wiley in Prenatal Diagnosis

Vol. 10 (2) , 85-91
https://doi.org/10.1002/pd.1970100204

Abstract

A new fluorogenic substrate, 4 methylumbelliferylβ‐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.

Keywords

This publication has 13 references indexed in Scilit:

First‐trimester diagnosis of metachromatic leucodystrophy
Clinical Genetics, 1988
Measurement of protein using bicinchoninic acid
Analytical Biochemistry, 1985
FIRST TRIMESTER DIAGNOSIS OF HUNTER SYNDROME ON CHORIONIC VILLI
The Lancet, 1984
Galactose 6-sulfate sulfatase activity in Morquio syndrome
Clinica Chimica Acta; International Journal of Clinical Chemistry, 1982
Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycans
Prenatal Diagnosis, 1982
Impaired degradation of keratan sulphate by Morquio A fibroblasts
Biochemical Journal, 1982
Prenatal diagnosis of morquio's disease type a (n-acetylgalactosamine 6-sulphate sulphatase deficiency)
Prenatal Diagnosis, 1982
DIFFERENT PROPERTIES OF RESIDUAL N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE IN FIBROBLASTS FROM PATIENTS WITH MILD AND SEVERE FORMS OF MORQUIO DISEASE TYPE A
Pediatric Research, 1981
N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.
Journal of Clinical Investigation, 1976