Tier 4 — mechanistic

Effect of betaine on S-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
Journal of inherited metabolic disease 1994 17(5):560-565

Bibliography

PubMed
PMID 7837762
DOI
10.1007/BF00711591
Funding
Funding was not specified in the indexed record or accessible funding metadata.
Competing interests
A competing-interest declaration was not available in the indexed record or accessible disclosure metadata.

Study snapshot

DesignCase report
ModelHuman participants
SampleOne 16-year-old girl with severe MTHFR deficiency and neuropathy
InterventionBetaine monohydrate added after inadequate vitamin response
Duration24-month biochemical follow-up
EndpointsPeripheral neuropathy; CSF SAM

What the study showed, in plain terms

Published in 1994, this source examined prescription betaine and inherited metabolic disorders. Design: Case report. Sample/model: One 16-year-old girl with severe MTHFR deficiency and neuropathy. The exposure or intervention was Betaine monohydrate added after inadequate vitamin response. Follow-up or treatment period: 24-month biochemical follow-up.

Gait and muscle symptoms improved, and cerebrospinal-fluid SAM rose from undetectable to approximately normal levels.

One patient with a rare enzyme deficiency; this does not demonstrate cognitive or methylation benefit in healthy supplement users.

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Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • Gait and muscle symptoms improved, and cerebrospinal-fluid SAM rose from undetectable to approximately normal levels.
  • The recorded outcome domains were Peripheral neuropathy; CSF SAM.

What this study can and cannot tell us

  • One patient with a rare enzyme deficiency; this does not demonstrate cognitive or methylation benefit in healthy supplement users.
  • A case report or series cannot estimate how often an event occurs or establish causality without alternative explanations and a suitable comparator.
  • Source basis: Indexed abstract and bibliographic data. Missing method details, funding information or participant denominators are not inferred.

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Editorial review

Reviewed by the Biohack Blueprint research team

Last verified

Dr. Khaled Mahmoud, MBBChCritical Care Medicine, Longevity Science & Editorial Direction Dr. Amr Yasser, PhDCardiometabolic, Musculoskeletal, Gut & Bioavailability Dr. Abdulla Mostafa, PhDCellular Senescence, Neurological, Mitochondrial & Brain-Ageing Biology