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Progressive Accumulation of Toxic Metabolite in a Genetic Leukodystrophy
Abstract
Progressive accumulation of a cytotoxic metabolite, galactosylsphingosine (psychosine), was found in the brain of the twitcher mouse, a mutant caused by genetic deficiency of galactosylceramidase. Similar abnormal accumulation was also found in the brain of the genetic galactosylceramidase deficiency disease in the dog and in human patients (globoid cell leukodystrophy or Krabbe disease). Galactosylsphingosine was absent in the brains of normal and heterozygous mice. The finding provides support for the psychosine hypothesis as the biochemical pathogenetic mechanism of globoid cell leukodystrophy. Analogous mechanisms may be important in the pathogenesis of other genetic lysosomal diseases.
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Cited by
Quantitative aspects of reactive gliosis: A review
Norton, W. T., Aquino, D. A., Hozumi, I., Chiu, F. C., & Brosnan, C. F. (1992) · Neurochemical Research · doi:10.1007/bf00993263 · Cited by 549
van der Knaap, M. S., & Bugiani, M. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1739-1 · Cited by 403
Giussani, P., Prinetti, A., & Tringali, C. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15133 · Cited by 91
Metadata
- Authors
- Igisu, H., & Suzuki, K.
- Venue
- Science
- Published
- 1984-05-18
- Volume
- 224
- Issue
- 4650
- Pages
- 753-755
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1971989809
- Cited by
- 236
- References
- 0
- FWCI
- 6.87
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Progressive Accumulation of Toxic Metabolite in a Genetic Leukodystrophy. https://app.cochat.ai/papers/10.1126/science.6719111
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- Igisu, H., & Suzuki, K. (1984). Progressive Accumulation of Toxic Metabolite in a Genetic Leukodystrophy. Science. https://doi.org/10.1126/science.6719111
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
