Abstract
The mucopolysaccharidoses are a group of connective tissue disorders, classified by McKusick (1966), in which specific recessively inherited enzyme deficiencies result in an inadequate catabolism of glycosaminoglycans (GAGs), leading to an excessive accumulation within the tissues and a greatly increased urinary excretion. In pregnancies where it is suspected that the foetus may have inherited one of these disorders, amniocentesis is often carried out in order to ascertain the GAG composition of the amniotic fluid as a diagnostic aid to prophylactic abortion. A number of instances have now been reported (Matalon, Dorfman, Nadler and Jacobson, 1970; Matalon and Dorfman, 1972a; Crawfurd et al., 1973) in which qualitative and quantitative GAG abnormalities have been detected in the amniotic fluid of suspected cases, presumably due to excretion by the foetus. We have carried out further studies of foetal tissue from two cases of Hurler’s syndrome in which GAG abnormalities have been detected following amniocentesis and, in both cases, the GAG abnormalities in the amniotic fluids reflected the abnormalities in the foetal tissues.
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© 1975 Medical and Technical Publishing Co. Ltd.
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Dean, M.F., Muir, H. (1975). Glycosaminoglycans of foetal tissue in two cases of Hurler’s syndrome. In: Holton, J.B., Ireland, J.T. (eds) Inborn Errors of Skin, Hair and Connective Tissue. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-6615-7_5
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DOI: https://doi.org/10.1007/978-94-011-6615-7_5
Publisher Name: Springer, Dordrecht
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