Journal of Inherited Metabolic Disease

, Volume 16, Issue 4, pp 762–770

Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain

Authors

  • R. Surtees
    • Institute of Child Health
Article

DOI: 10.1007/BF00711908

Cite this article as:
Surtees, R. J Inherit Metab Dis (1993) 16: 762. doi:10.1007/BF00711908

Summary

In humans, subacute combined degeneration of the spinal cord and brain, a primary demyelinating disease, is caused by cobalamin or methyltetrahydrofolate deficiency. Experimental studies into its pathogenesis suggest that dysfunction of the methyl-transfer pathway may be the cause. Compelling evidence for this comes from the study of inborn errors of cobalamin metabolism where deficiency of methylcobalamin, but not deoxyadenosylcobalamin, is associated with demyelination. Recent studies have focused upon inborn errors of the methyl-transfer pathway. Cerebrospinal fluid concentrations of metabolites of the methyl-transfer pathway have been measured in humans with sequential errors of the pathway and correlated with demyelination demonstrated on magnetic resonance imaging of the brain. This has provided new data suggesting that deficiency ofS-adenosylmethionine is critical to the development of demyelination in cobalamin deficiency.

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Copyright information

© SSIEM and Kluwer Academic Publishers 1993