Globoid cell leukodystrophy Krabbe

Diagnosis of Globoid Cell Leukodystrophy (Krabbe s Disease)". Blochem. Blophys. Res. Commun., (1971), 1363-1366. 

Globoid cell leukodystrophy (Krabbe s disease) Galactosylceramidase Galactosylsphingosine Galactosylceramide... 

Suzuki K. Biochemical pathogenesis of genetic leukodystrophies comparison of metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe s disease). Neuropediatrics 1984 15 32-36. 

R. Koike, S. Tsuji, Y. Fukumaki, K. Hayashi, and T. Kobayashi. 1997. Adult onset globoid cell leukodystrophy (Krabbe disease) Analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet 100 450-456. 

Suzuki, K., and K. Suzuki. 1985. Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. Neurochem Pathol 3 53-68. 

Wenger, D. A., K. Suzuki, Y. Suzuki, and K. Suzuki. 2001. Globoid cell leukodystrophy (Krabbe disease), p. 3669-3694. In AL, Beaudet, Scriver, CR, Sly WAS, VaUe D, Childs B, Vogelstein B (eds.), The Metabolic and Molecular Basis of Inherited Disease, 8th ed. McGraw-Hill, New York. 

Further reading Suzuki, K. and Suzuki, Y. (1978). Galacto-sylceramide lipidosis. Globoid cell leukodystrophy (Krabbe s disease). In Stanbury, J.B., Wyngaarden, J.B. and Fredrickson, D.S. (eds.) The Metabolic Basis of Inherited Disease, 4th Edn., p. 747. (New York McGraw-Hill)... 

In globoid cell leukodystrophy (Krabbe s disease) in the central nervous system, the level of sulfatide is decreased and that of cere-broside increased as compared to normal conditions. The disorder is caused by a deficiency of a cerebroside sulfotransferase (Bachhawat et al., 1967). Familial globoid cell leukodystrophy is not restricted to humans, but occurs also in dogs (Fankhauser, 1963 Fletcher, 1966 Hirth and Nielsen, 1967). 

Suzuki, K., 1977, Globoid cell leukodystrophy (Krabbe disease) and GMl-gangliosidosis, in Practical Enzymology of the Sphingolipidoses (R. H. Glew and S. P. Peters, eds.), Liss, New York, pp. 101-136. 

Krabbe disease (Globoid-cell leukodystrophy) Galactosylceramidase Galactosylceramide psycosine... 

Kolodny, E. H., S. Raghavan, and W. Krivit. 1991. Late-onset Krabbe disease (globoid cell leukodystrophy) Clinical and biochemical features of 15 cases. Dev Neurosci 13 232-239. Korenke, G. C., H. J. Christen, B. Kruse, D. H. Hunneman, and F. Hanefeld. 1997. Progression of X-linked adrenoleukodystrophy under interferon-I therapy. J Inherit Metab Dis V20 59-66. Krabbe, K. 1916. A new familial, infamtUe form of diffuse brain sclerosis. Brain 39 74-114. 

Krabbe S disease, or Krabbe s leukodystn hy, or Galactosylceramide lipidosis, or Globoid cell leukodystrophy (a sphingolipidosis) (see Fig. 3). 

Krabbe s leukodystrophy AR Galactocerebroside- P-galactosidase Globoid cells contain galactocerebroside see text 1,2, Ch. 40... 

Cerebrosides and sphingomyelin are believed to accumulate in the globoid bodies. In fact, the injection of cerebrosides into rats has led to the appearance in the white matter of cells that resemble globoid cells. The biochemical defect in Krabbe s disease is still unknown, but two clues are available. There are no defects in sphingomyelin breakdown, there is a shift in the ratio of cerebrosides to sulfatides (from 3 to 1 in the normal individuals to 12 to 1 in those with leukodystrophy. These observations have led to the suggestion [127-130] that the lipidosis results from a deficiency of a sulfate-transferring enzyme (see Fig. 3-43). 

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