Tier 4 — mechanistic

Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

U Wendel, H J Bremer
European journal of pediatrics 1984 142(2):147-150

Bibliography

PubMed
PMID 6381059
DOI
10.1007/BF00445602
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 3-year-old child with severe MTHFR deficiency
InterventionBetaine 15-20 g/day in specialist care
DurationClinical treatment follow-up
EndpointsHomocysteine; Methionine; Clinical response

What the study showed, in plain terms

Published in 1984, this source examined prescription betaine and inherited metabolic disorders. Design: Case report. Sample/model: One 3-year-old child with severe MTHFR deficiency. The exposure or intervention was Betaine 15-20 g/day in specialist care. Follow-up or treatment period: Clinical treatment follow-up.

Homocysteine fell markedly, methionine normalized and some clinical improvement occurred, while developmental impairment persisted.

A historical single case with very high medical dosing; severe inherited MTHFR deficiency differs from common MTHFR variants.

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Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • Homocysteine fell markedly, methionine normalized and some clinical improvement occurred, while developmental impairment persisted.
  • The recorded outcome domains were Homocysteine; Methionine; Clinical response.

What this study can and cannot tell us

  • A historical single case with very high medical dosing; severe inherited MTHFR deficiency differs from common MTHFR variants.
  • 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