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Prenatal diagnosis of GM 2 ‐gangliosidosis B1 variant
Author(s) -
Lemos M.,
Pinto R.,
Ribeiro G.,
Ribeiro H.,
Lopes L.,
Miranda M. C. Sá
Publication year - 1995
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.1970150614
Subject(s) - gangliosidosis , prenatal diagnosis , fetus , juvenile , medicine , tay sachs disease , pregnancy , endocrinology , pathology , biology , genetics , disease
Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM 2 ‐gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM 2 ‐ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM 2 ‐gangliosidosis (0 variant) was compared.