Journal of Inherited Metabolic Disease

, Volume 17, Issue 5, pp 560–565 | Cite as

Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy

  • T. Kishi
  • I. Kawamura
  • Y. Harada
  • T. Eguchi
  • N. Sakura
  • K. Ueda
  • K. Narisawa
  • D. S. Rosenblatt
Article

Summary

A 16-year-old Japanese girl with 5,10-methylenetetrahydrofolate reductase deficiency showed peripheral neuropathy. There were no significant responses to vitamin B6, vitamin B12 or folate, given alone or in combination. With the addition of betaine monohydrate, she has been free from gait disturbance and muscle weakness. The concentration ofS-adenosylmethionine in cerebrospinal fluid, which was undetectable before receiving betaine monohydrate, increased to about the normal level 24 months after treatment with betaine monohydrate.

Keywords

Public Health Internal Medicine Neuropathy Folate Cerebrospinal Fluid 

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Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1994

Authors and Affiliations

  • T. Kishi
    • 1
  • I. Kawamura
    • 1
  • Y. Harada
    • 1
  • T. Eguchi
    • 1
  • N. Sakura
    • 1
  • K. Ueda
    • 1
  • K. Narisawa
    • 2
  • D. S. Rosenblatt
    • 3
  1. 1.Department of PediatricsHiroshima University School of Medicine, Department of Biomedical GeneticsJapan
  2. 2.Tohoku University School of MedicineJapan
  3. 3.Division of Medical Genetics, Royal Victoria HospitalMcGill UniversityCanada

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