Recent Biochemical Studies of Krabbe's Globoid Cell Leucodystrophy

Abstract

1. Recent biochemical studies of Krabbe's globoid cell leucodystrophy (GLD) in the author's laboratory are reviewed.
2. There is a profound deficiency of galactocerebroside β-galactosidase in the brain, liver, spleen, kidney, serum, leucocytes and cultured fibroblasts of patients with GLD. This deficiency has been found in all of the GLD specimens without exception, and it has not been found in any of normal or pathological controls.
3. The same enzymatic deficiency exists in the canine form of GLD.
4. In both human and canine GLD, heterozygous carriers of the disease generally show partially deficient activity of galactocerebroside β-galactosidase.
5. These results indicate that lack of galactocerebroside β-galactosidase is the genetically determined enzymatic defect underlying GLD. A satisfactory hypothesis has been constructed to explain known morphological and biochemical features of the disease on the basis of this deficiency, coupled with two unique features of brain galactocerebroside.
6. It is now possible to make definitive antemortem and prenatal diagnosis of GLD by assaying serum, leucocytes, cultured fibroblasts or aminiotic fluid cells for galactocerebroside β-galactosidase activity, without resorting to brain biopsies.