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Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells
Author(s) -
Gatti R.,
Borrone C.,
Filocamo M.,
Pan N.,
Di Natale P.
Publication year - 1985
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/pd.1970050209
Subject(s) - mucopolysaccharidosis , prenatal diagnosis , hurler syndrome , pregnancy , medicine , hunter syndrome , mucopolysaccharidosis i , mucopolysaccharidosis type ii , enzyme , fetus , pediatrics , obstetrics , enzyme replacement therapy , pathology , biology , disease , biochemistry , genetics
We investigated a case (1.1.) of the severe form of mucopolysaccharidosis I (Hurler syndrome). Prenatal diagnosis was requested by the parents and the next pregnancy was monitored. We report here a special difficulty arising in this diagnosis due to the low enzyme activity in the mother's cells (10–15 per cent of controls) as well as in amniotic cells and would like to stress the need for studying the index case as well as the parents' enzyme activities in order to be prepared for possible difficulties at prenatal analysis.