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Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
  1. E Holme,
  2. B Kjellman,
  3. E Ronge
  1. Department of Clinical Chemistry, Gothenburg University, Sweden.


    A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.

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