High doses of vitamins are used to treat many inheritable human diseases. The molecular basis of disease arising from as many as one-third of the mutations in a gene is an increased Michaelis constant, or Km, (decreased binding affinity) of an enzyme for the vitamin-derived coenzyme or substrate, which in turn lowers the rate of the reaction.
About 50 human genetic dis-eases due to defective enzymes can be remedied or ameliorated by the administration of high doses of the vitamin component of the corresponding coenzyme, which at least partially restores enzymatic activity. Several single-nucleotide polymorphisms, in which the variant amino acid reduces coenzyme binding and thus enzymatic activity, are likely to be remediable by raising cellular concentrations of the cofactor through high-dose vitamin therapy.