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Science 8 January 1971:
Vol. 171. no. 3966, pp. 73 - 75
DOI: 10.1126/science.171.3966.73
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Articles

Krabbe's Globoid Cell Leukodystrophy: Deficiency of Galactocerebrosidase in Serum, Leukocytes, and Fibroblasts

Yoshiyuki Suzuki 1 and Kunihiko Suzuki 1

1 Department of Neurology, University of Pennsylvania, School of Medicine, Philadelphia 19104

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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Leukodystrophy in Children: A Pictorial Review of MR Imaging Features.
J.-E. Cheon, I.-O. Kim, Y. S. Hwang, K. J. Kim, K.-C. Wang, B.-K. Cho, J. G. Chi, C. J. Kim, W. S. Kim, and K. M. Yeon (2002)
RadioGraphics 22, 461-476
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Quantification of Cellular Acid Sphingomyelinase and Galactocerebroside {beta}-Galactosidase Activities by Electrospray Ionization Mass Spectrometry.
X. Zhou, F. Turecek, C. R. Scott, and M. H. Gelb (2001)
Clin. Chem. 47, 874-881
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Congenital Muscle Fiber-Type Disproportion in Krabbe's Leukodystrophy.
F. Dehkharghani, H. B. Sarnat, M. A. Brewster, and S. I. Roth (1981)
Arch Neurol 38, 585-587
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Optic Nerve in Globoid Leukodystrophy (Krabbe's Disease) Ultrastructural Changes.
S. Brownstein, K. Meagher-Villemure, R. C. Polomeno, and J. M. Little (1978)
Arch Ophthalmol 96, 864-870
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Biochemical Genetics in Neurology.
R. O. Brady (1976)
Arch Neurol 33, 145-151
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Globoid Leukodystrophy: I. Clinical and Enzymatic Studies.
M. J. Malone, M. C. Szoke, and G. L. Looney (1975)
Arch Neurol 32, 606-612
   Abstract »    PDF »
Fetal Globoid Cell Leukodystrophy (Krabbe Disease) Pathological and Biochemical Examination.
W. G. Ellis, E. L. Schneider, J. R. McCulloch, K. Suzuki, and C. J. Epstein (1973)
Arch Neurol 29, 253-257
   Abstract »    PDF »


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