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Use of microtechniques for the detection of lysosomal enzyme disorders: Tay‐Sachs disease, Gm 1 ‐gangliosidosis and Fabry disease
Author(s) -
Bladon Mariluci T.,
Milunsky Aubrey
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb02102.x
Subject(s) - tay sachs disease , gangliosidosis , fabry disease , lysosomal storage disease , sandhoff disease , mucopolysaccharidosis i , hexosaminidase , fabry's disease , disease , amniotic fluid , enzyme , medicine , enzyme replacement therapy , biology , pathology , pregnancy , fetus , biochemistry , genetics
A preliminary report on the use of microtechniques for the detection of three lysosomal storage diseases (Tay‐Sachs, GM 1 ‐gangliosidosis and Fabry disease) is presented. This micro‐assay method uses from 100 to 300 cultured amniotic fluid cells or skin fibroblasts. A comparison between values for total activity and heat inactivated forms of hexosaminidase (in Tay‐Sachs disease) is presented. The feasibility of the use of this microtechnique in prenatal diagnosis is discussed.