Skip to main content
NCBI home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1970 Jun;66(2):302–309. doi: 10.1073/pnas.66.2.302

Globoid Cell Leucodystrophy (Krabbe's Disease): Deficiency of Galactocerebroside β-Galactosidase*

Kunihiko Suzuki 1,†, Yoshiyuki Suzuki 1
PMCID: PMC283044  PMID: 5271165

Abstract

Profound deficiency of a specific enzyme, galactocerebroside β-galactosidase, has been demonstrated in the brains, liver, and spleen of three patients with Krabbe's globoid cell leucodystrophy. The activity of this enzyme was normal in a variety of other cerebral diseases, including those with similarly devasted white matter. The lack of enzyme activity was not due to an inhibitor in the tissue, nor is it due to a shift in the pH optimum. The deficiency of galactocerebroside β-galactosidase as the primary enzymatic defect can account for the morphological and biochemical characteristics of this disease better than the previously reported deficiency of cerebroside-sulfatide sulfotransferase.

Full text

PDF
302

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AUSTIN J. H., LEHFELDT D. STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. 3. SIGNIFICANCE OF EXPERIMENTALLY-PRODUCED GLOBOID-LIKE ELEMENTS IN RAT WHITE MATTER AND SPLEEN. J Neuropathol Exp Neurol. 1965 Apr;24:265–289. [PubMed] [Google Scholar]
  2. AUSTIN J. H. STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. II. CONTROLLED THIN-LAYER CHROMATOGRAPHIC STUDIES OF GLOBOID BODY FRACTIONS IN SEVEN PATIENTS. J Neurochem. 1963 Dec;10:921–930. doi: 10.1111/j.1471-4159.1963.tb11919.x. [DOI] [PubMed] [Google Scholar]
  3. AUSTIN J. STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. I. THE SIGNIFICANCE OF LIPID ABNORMALITIES IN WHITE MATTER IN 8 GLOBOID AND 13 CONTROL PATIENTS. Arch Neurol. 1963 Sep;9:207–231. doi: 10.1001/archneur.1963.00460090013001. [DOI] [PubMed] [Google Scholar]
  4. Bowen D. M., Radin N. S. Cerebroside galactosidase: a method for determination and a comparison with other lysosomal enzymes in developing rat brain. J Neurochem. 1969 Apr;16(4):501–511. doi: 10.1111/j.1471-4159.1969.tb06849.x. [DOI] [PubMed] [Google Scholar]
  5. Bowen D. M., Radin N. S. Properties of cerebroside galactosidase. Biochim Biophys Acta. 1968 May 1;152(3):599–610. doi: 10.1016/0005-2760(68)90100-8. [DOI] [PubMed] [Google Scholar]
  6. Bowen D. M., Radin N. S. Purification of cerebroside galactosidase from rat brain. Biochim Biophys Acta. 1968 May 1;152(3):587–598. doi: 10.1016/0005-2760(68)90099-4. [DOI] [PubMed] [Google Scholar]
  7. D'AGOSTINO A. N., SAYRE G. P., HAYLES A. B. Krabbe's disease. Globoid cell type of leukodystrophy. Arch Neurol. 1963 Jan;8:82–96. doi: 10.1001/archneur.1963.00460010098012. [DOI] [PubMed] [Google Scholar]
  8. Frohwein Y. Z., Gatt S. Isolation of beta-N-acetylhexosaminidase, beta-N-acetylglucosaminidase, and beta-N-acetylgalactosaminidase from calf brain. Biochemistry. 1967 Sep;6(9):2775–2782. doi: 10.1021/bi00861a018. [DOI] [PubMed] [Google Scholar]
  9. Gatt S., Rapport M. M. Isolation of beta-galactosidase and beta-glucosidase from brain. Biochim Biophys Acta. 1966 Mar 7;113(3):567–576. doi: 10.1016/s0926-6593(66)80014-0. [DOI] [PubMed] [Google Scholar]
  10. Hajra A. K., Bowen D. M., Kishimoto Y., Radin N. S. Cerebroside galactosidase of brain. J Lipid Res. 1966 May;7(3):379–386. [PubMed] [Google Scholar]
  11. Kamoshita S., Rapin I., Suzuki K., Suzuki K. Spongy degeneration of the brain. A chemical study of two cases including isolation and characterization of myelin. Neurology. 1968 Oct;18(10):975–985. doi: 10.1212/wnl.18.10.975. [DOI] [PubMed] [Google Scholar]
  12. Okada S., O'Brien J. S. Generalized gangliosidosis: beta-galactosidase deficiency. Science. 1968 May 31;160(3831):1002–1004. doi: 10.1126/science.160.3831.1002. [DOI] [PubMed] [Google Scholar]
  13. Okada S., O'Brien J. S. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science. 1969 Aug 15;165(3894):698–700. doi: 10.1126/science.165.3894.698. [DOI] [PubMed] [Google Scholar]
  14. Radin N. S., Hof L., Bradley R. M., Brady R. O. Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain. Brain Res. 1969 Jul;14(2):497–505. doi: 10.1016/0006-8993(69)90124-3. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES