Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk
- 1 July 1983
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 3 (3), 179-186
- https://doi.org/10.1002/pd.1970030302
Abstract
In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α‐L‐iduronidase deficiency and an increased level of 35S‐sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for α‐L‐iduronidase, using phenyl α‐L‐iduronide and more recently 4–methyl‐umbelliferyl α‐L‐iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. 35S‐sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.Keywords
This publication has 19 references indexed in Scilit:
- Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycansPrenatal Diagnosis, 1982
- The Hurler syndrome: detection of patients and heterozygotes using a microassay for α-l-iduronidase in fibroblastsClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Correct prenatal diagnosis of a hurler fetus where amniotic fluid cell cultures were of maternal originPrenatal Diagnosis, 1981
- An altered hexosaminidase A in the liver affected by Hurler and Hunter syndromes.The Tohoku Journal of Experimental Medicine, 1980
- PRENATAL DIAGNOSIS OF TWO HURLER FETUSES USING AN IMPROVED ASSAY FOR METHYLUMBELLIFERYL-α-L-IDURONEDASEThe Lancet, 1979
- A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromesClinica Chimica Acta; International Journal of Clinical Chemistry, 1979
- NEUROCHEMISTRY OF THE MUCOPOLYSACCHARIDOSES: BRAIN LIPIDS AND LYSOSOMAL ENZYMES IN PATIENTS WITH FOUR TYPES OF MUCOPOLYSACCHARIDOSIS AND IN NORMAL CONTROLSJournal of Neurochemistry, 1978
- Mucopolysaccharidosis: Secondarily Induced Abnormal Distribution of Lysosomal IsoenzymesScience, 1973
- Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the FetusJournal of Medical Genetics, 1973
- Hurler's syndrome, an a-L-iduronidase deficiencyBiochemical and Biophysical Research Communications, 1972