Tier 4 — mechanistic

Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency

E Ronge, B Kjellman
Archives of disease in childhood 1996 74(3):239-241

Bibliography

PubMed
PMID 8787431
PubMed Central
PMC1511422
DOI
10.1136/adc.74.3.239
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

DesignLong-term case report
ModelHuman participants
SampleOne girl treated from early infancy
InterventionBetaine 3-6 g/day, sometimes with folic acid
DurationFollow-up to age 7.5 years
EndpointsLong-term metabolic control; Development; Safety observations

What the study showed, in plain terms

Published in 1996, this source examined prescription betaine and inherited metabolic disorders. Design: Long-term case report. Sample/model: One girl treated from early infancy. The exposure or intervention was Betaine 3-6 g/day, sometimes with folic acid. Follow-up or treatment period: Follow-up to age 7.5 years.

Methionine remained in the normal range and homocysteine moderately elevated; developmental and visual difficulties persisted.

Single case with variable dosing and co-treatment. Increased appetite and weight were observed without a clear causal explanation.

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Key findings

  • Methionine remained in the normal range and homocysteine moderately elevated; developmental and visual difficulties persisted.
  • The recorded outcome domains were Long-term metabolic control; Development; Safety observations.

What this study can and cannot tell us

  • Single case with variable dosing and co-treatment. Increased appetite and weight were observed without a clear causal explanation.
  • 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