Nonsense mutations have been found to be associated with the absence of any carnitine transport activity
however, mitochondria from individuals with DAMD demonstrate decreased function compared to age-matched controls [72, 73]
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Supplementation of autistic children with twice daily administration of 800 g folinic acid and 1000 mg betaine over a 3 month period was effective in normalizing methionine cycle metabolites to the concentrations in controls
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