Fetal Globoid Cell Leukodystrophy (Krabbe Disease)

Galactosylceramide and galactosylsphingosine (psychosine) were assayed in tissues from infants and fetuses with globoid cell leukodystrophy (GLD). Galactosylceramide concentrations were not increased in nervous tissues or other organs. Using a sensitive assay method, we found galactosylsphingosine accumulations in GLD tissues, both infantile and fetal, which suggests that GLD is a generalized galactosylsphingosine storage disease. High galactosylsphingosine levels were observed in the brain, spinal cord, and sciatic nerve of infants with GLD and in the spinal cord of a fetus with GLD, where lesions characteristic to GLD were noted. In tissues without morphological changes, such as somatic organs and the brain in fetal GLD, galactosylsphingosine concentrations were low. These results suggest that a close relationship exists between galactosylsphingosine accumulation and the pathogenesis of GLD. The finding that galactosylsphingosine, but not galactosylceramide, accumulates in the tissue of GLD can be explained by our previous observation that galactosylceramide, but not galactosylsphingosine, is readily hydrolyzed by an intact galactosylceramidase II, which is genetically distinct from galactosylceramidase I.

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Globoid Cell Leukodystrophy: Krabbe Disease

2005

Magnetic Resonance of Myelination and Myelin Disorders

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Fetal Globoid Cell Leukodystrophy (Krabbe Disease)

Abstract: The prenatal diagnosis of globoid cell leukodystrophy was confirmed in a 22-ges-

Cited by 33 publications

References 20 publications

Original article Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature

Original article Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature

Infantile and fetal globoid cell leukodystrophy: Analysis of galactosylceramide and galactosylsphingosine

Globoid Cell Leukodystrophy: Krabbe Disease

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