A prenatal diagnosis of GMl-gangliosidosis was made in a pregnancy at risk, on the basis of a deficiency offl-galactosidase activity demonstrated in cultured amniotic fluid cells. Biochemical analyses were performed in the aborted fetus. GMl-ganglioside fl-galactosidase activity was reduced to 1% of
Gm1-gangliosidosis type I: In utero detection and fetal manifestations
β Scribed by Michael M. Kaback; Howard R. Sloan; Marguerite Sonneborn; Robert M. Herndon; Alan K. Percy
- Book ID
- 118537646
- Publisher
- Elsevier Science
- Year
- 1973
- Tongue
- English
- Weight
- 938 KB
- Volume
- 82
- Category
- Article
- ISSN
- 1097-6833
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Uptake of radioactivity from 14C-galactose into gangliosides by cultured skin fibroblasts was studied. GM3 was the major ganglioside in control human fibroblasts. An increase of GM1 was demonstrated in GM1-gangliosidosis fibroblasts. The degree of GM1 accumulation was correlated with the clinical ty