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 act
Fetal Krabbe leukodystrophy
โ Scribed by J. J. Martin; J. G. Leroy; C. Ceuterick; J. Libert; P. Dodinval; L. Martin
- Publisher
- Springer-Verlag
- Year
- 1981
- Tongue
- English
- Weight
- 949 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0001-6322
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๐ SIMILAR VOLUMES
Galactocerebrosidase (GALC) is a lysosomal b-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. It is also call
Sixteen pregnancies in families with children enzymatically diagnosed as having Krabbe disease (KD) were monitored for prenatal KD using the assay of galactosyl ceramide beta-galactosidase (GCG) in uncultured chorionic villi (CV), cultured CV, or cultured amniotic fluid cells (AFC). Prenatal KD diag