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Case Reports
. 1989 Jul;64(7):1061-4.
doi: 10.1136/adc.64.7.1061.

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

E Holme  1 , B Kjellman, E Ronge
Affiliations
Case Reports

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

E Holme et al. Arch Dis Child. 1989 Jul.

Abstract

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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References

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