Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.

Abstract:

:We previously described demyelination in the brain and subacute combined degeneration of the spinal cord in a patient with 5,10-methylenetetrahydrofolate reductase deficiency. To assess the role of methionine, S-adenosylmethionine, folate, and neurotransmitter amine metabolism in the demyelination process, we measured these metabolites in CSF from this patient; the findings are compared with those obtained from three patients in whom neurologic deterioration had been halted by the administration of betaine. Folate concentrations were low, and amine and biopterin metabolism were abnormal in all patients. Methionine and S-adenosylmethionine concentrations were undetectable in the first patient. In those receiving betaine, methionine concentrations were proportional to the dose administered and S-adenosylmethionine concentrations were near normal. The results provide the first evidence for an association between defective S-adenosylmethionine metabolism and demyelination in humans.

journal_name

Neurology

journal_title

Neurology

authors

Hyland K,Smith I,Bottiglieri T,Perry J,Wendel U,Clayton PT,Leonard JV

doi

10.1212/wnl.38.3.459

subject

Has Abstract

pub_date

1988-03-01 00:00:00

pages

459-62

issue

3

eissn

0028-3878

issn

1526-632X

journal_volume

38

pub_type

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