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Inborn Errors of Complex Carbohydrate Catabolism

  • Glyn Dawson
  • Larry W. Hancock
Chapter

Abstract

Complex carbohydrates of the nervous system are degraded in lysosomes by the sequential action of a group of exoglycosidases known collectively as the lysosomal hydrolases. Inherited defects in the synthesis, assembly, or turnover of these hydrolases lead to storage diseases in humans (Spranger, 1987) and a variety of domestic animals. Those involving the nervous system result in spectacular neuropathology and provide the best evidence for the types of glycoconjugates synthesized by nervous tissue, as well as their rate of turnover. For example, in Tay—Sachs disease, storage material (GM2 ganglioside) predominates in nervous tissue, especially motor neurons, and is virtually absent from visceral tissue. The variable level of accumulation of GM2 in different brain regions (identified morphologically as multilamellar cytosomes) can be related to different levels of synthesis and degradation. This clearly manifests itself in patients with partial hexosaminidase (HexA) deficiencies, who exhibit symptoms of motor neuron disease, or spinocerebellar degeneration with other neuronal function (such as vision and intelligence) relatively intact. The absence of GM2 storage outside the CNS reflects the lack of GM2 synthesis in nonneural tissue. However, since lysosomal hydrolases are synthesized constitutively in all tissues, GM2 can be fed to fibroblasts from HexA-deficient patients, and its steady accumulation observed. Thus, storage patterns in patients with inherited enzyme defects can be used to give an accurate reflection of glycoconjugate content of the CNS versus nonneural tissue and this will be emphasized on an enzyme/disease, case-by-case basis.

Keywords

Heparan Sulfate Fabry Disease Storage Disease Inborn Error Neuronal Ceroid Lipofuscinosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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© Springer Science+Business Media New York 1989

Authors and Affiliations

  • Glyn Dawson
    • 1
  • Larry W. Hancock
    • 1
  1. 1.Departments of Pediatrics and Biochemistry and Molecular BiologyUniversity of ChicagoChicagoUSA

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