Globoid leukodystrophy disease

Globoid leukodystrophy Metachromatic leukodystrophy X-linked adrenoleukodystrophy Refsum s disease Cystinosis... 

In Krabbe s disease (globoid leukodystrophy) there is accumulation of galactocerebroside in the white matter of the diild s nervous system, as lysosomes lack the enzyme galactoceiebrosid. There is poor myelinization, optic atrophy, mental retardation and, typically, death within 1-2 years of the condition s onset in in ncy. 

Krabbe s disease (Globoid leukodystrophy) Mental retardation, almost total absence of myelin, globoid bodies in white matter of brain Galactocerebroside Galactocerebroside -galactosidase... 

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

Ellis, W. G. Schneider E. L. McCulloch, J. R. Suzuki R. and Epstein, C. J. "Fetal Globoid Cell Leukodystrophy (Rrabbe s Disease) Pathological and Biochemical Examination". Arch. Neurol., (1973), 29, 253-257. 

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

Krivit, W., Peters, C. and Shapiro, E. G. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachro-matic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol. 12 167-176,1999. 

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

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

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. 

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. 

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., M. A. Rafi, and P. Luzi. 1997. Molecular genetics of Krabbe disease (globoid ceU leukodystrophy) Diagnostic and clinical implications. Hum Mutat 10 268-279. 

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. 

Globoid cell leukodystrophy see Lysosomal storage diseases... 

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

Krabbe s Disease, or Globoid Lipoidosis. The brain of these patients usually appears normal, except for a reduction in size. On section, leukodystrophy of the centrum ovale, the brain stem, and the cerebellum is detectable. Histologically, demyelinization, astrocy-... 

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). 

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. 

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