• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of pnasPNASInfo for AuthorsSubscriptionsAboutThis Article
Proc Natl Acad Sci U S A. Jun 1970; 66(2): 302–309.
PMCID: PMC283044

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

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

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.0M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • 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. [PubMed]
  • 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. [PubMed]
  • AUSTIN JH. 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. [PubMed]
  • AUSTIN JH, 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]
  • Hajra AK, Bowen DM, Kishimoto Y, Radin NS. Cerebroside galactosidase of brain. J Lipid Res. 1966 May;7(3):379–386. [PubMed]
  • Bowen DM, Radin NS. Purification of cerebroside galactosidase from rat brain. Biochim Biophys Acta. 1968 May 1;152(3):587–598. [PubMed]
  • Bowen DM, Radin NS. Properties of cerebroside galactosidase. Biochim Biophys Acta. 1968 May 1;152(3):599–610. [PubMed]
  • Bowen DM, Radin NS. 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. [PubMed]
  • Radin NS, Hof L, Bradley RM, Brady RO. Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain. Brain Res. 1969 Jul;14(2):497–505. [PubMed]
  • Gatt S, Rapport MM. Isolation of beta-galactosidase and beta-glucosidase from brain. Biochim Biophys Acta. 1966 Mar 7;113(3):567–576. [PubMed]
  • Frohwein YZ, Gatt S. Isolation of beta-N-acetylhexosaminidase, beta-N-acetylglucosaminidase, and beta-N-acetylgalactosaminidase from calf brain. Biochemistry. 1967 Sep;6(9):2775–2782. [PubMed]
  • Okada S, O'Brien JS. Generalized gangliosidosis: beta-galactosidase deficiency. Science. 1968 May 31;160(3831):1002–1004. [PubMed]
  • D'AGOSTINO AN, SAYRE GP, HAYLES AB. Krabbe's disease. Globoid cell type of leukodystrophy. Arch Neurol. 1963 Jan;8:82–96. [PubMed]
  • Okada S, O'Brien JS. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science. 1969 Aug 15;165(3894):698–700. [PubMed]

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

Formats:

Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...

Links

  • Compound
    Compound
    PubChem Compound links
  • MedGen
    MedGen
    Related information in MedGen
  • OMIM
    OMIM
    OMIM record citing PubMed
  • PubMed
    PubMed
    PubMed citations for these articles
  • Substance
    Substance
    PubChem Substance links

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...