Science. 1971 Jan 8;171(3966):73-5.

Krabbe's globoid cell leukodystrophy: deficiency of glactocerebrosidase in serum, leukocytes, and fibroblasts.

Abstract

The activity of galactocerebroside beta-galactosidase was extremely low in serum, leukocytes, and cultured fibroblasts of patients with Krabbe's disease. Antemortem diagnosis is possible without organ biopsies. The parents of patients showed enzyme activities generally lower than that of normal controls. This finding provides supportive evidence that the deficient activity of galactocerebroside beta-galactosidase is the genetically determined enzymatic defect underlying the disease. Demonstration of this deficiency requires the use of the specific substrate, galactocerebroside. Assays carried out with synthetic, unnatural substrates, such as 4-methylumbelliferyl beta-galactoside, do not distinguish patients or heterozygous carriers from normal individuals.

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Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease. [Clin Chim Acta. 1981]
Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease.
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Krabbe's globoid cell leukodystrophy: deficiency of galactocerebroside beta-galactosidase activity. [J Neuropathol Exp Neurol. 1971]
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Cited by 11 PubMed Central articles

Krabbe's globoid cell leukodystrophy. Galactocerebroside -galactosidase deficiency: a multidisciplinary approach to the study of patients with progressive neurological disease. [Can Med Assoc J. 1971]
Krabbe's globoid cell leukodystrophy. Galactocerebroside -galactosidase deficiency: a multidisciplinary approach to the study of patients with progressive neurological disease.
. Can Med Assoc J. 1971 Sep 4; 105(5):505-11.
Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset. [Arch Dis Child. 1972]
Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.
Young E, Wilson J, Patrick AD, Crome L. Arch Dis Child. 1972 Jun; 47(253):449-50.
Animal model: globoid cell leukodystrophy in the dog. [Am J Pathol. 1972]
Animal model: globoid cell leukodystrophy in the dog.
Fletcher TF, Kurtz HJ. Am J Pathol. 1972 Feb; 66(2):375-8.

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