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Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case
Human Genetics
|February 11, 1977
Insights
Prenatal diagnosis of Krabbe
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Globoid cell leukodystrophy (Krabbe's disease) is a severe genetic disorder.
- It results from a deficiency in the enzyme galactocerebrosidase.
- Prenatal diagnosis is crucial for affected families.
Abstract:
A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside beta-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme activity was found. This finding, which had been demonstrated in a previous case, is discussed.