Further Studies on Galactocerebroside β-Galactosidase in Globoid Cell Leukodystrophy
The genetic cause underlying globoid cell leukodystrophy (Krabbe’s disease) appears to be the deficiency of galactocerebroside β-galactosidase (galactosylceramide galactosyl hydrolase). Among postmortem organs, the deficiency was initially demonstrated in the brain, liver and spleen from three patients (11). This was later confirmed in the brain, liver and kidney of five additional patients (1, 13). Furthermore, the same deficiency has been demonstrated in peripheral leukocytes (5, 12), serum and cultured fibroblasts (12) from patients afflicted with this fatal neurological disorder. In addition to the diagnostic value of the galactocerebrosidase assay on these easily obtainable materials, our preliminary data indicated the possibility of heterozygous carrier detection utilizing these materials(12).
KeywordsHeterozygous Carrier Peripheral Leukocyte Amniotic Fluid Cell Serum Enzyme Activity Specific Deficiency
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