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Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain
Author(s) -
Surtees R.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711908
Subject(s) - cobalamin , subacute combined degeneration , pathogenesis , spinal cord , cerebrospinal fluid , methylcobalamin , medicine , inborn error of metabolism , multiple sclerosis , pathology , vitamin b12 , neuroscience , endocrinology , biology , immunology , psychiatry
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 of S ‐adenosylmethionine is critical to the development of demyelination in cobalamin deficiency.