Tier 4 — mechanistic

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

E Holme, B Kjellman, E Ronge
Archives of disease in childhood 1989 64(7):1061-1064

Bibliography

PubMed
PMID 2629632
PubMed Central
PMC1792677
DOI
10.1136/adc.64.7.1061
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 24-day-old infant with severe MTHFR deficiency
InterventionBetaine treatment
DurationEarly neonatal treatment and follow-up
EndpointsNeurological recovery; Severe MTHFR deficiency

What the study showed, in plain terms

Published in 1989, this source examined prescription betaine and inherited metabolic disorders. Design: Case report. Sample/model: One 24-day-old infant with severe MTHFR deficiency. The exposure or intervention was Betaine treatment. Follow-up or treatment period: Early neonatal treatment and follow-up.

The report describes substantial recovery from rapidly progressive encephalopathy and myopathy after treatment.

Single neonatal case; specialist treatment of an inherited disease does not establish infant or adult wellness use.

Continue with TMG Data Center

Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • The report describes substantial recovery from rapidly progressive encephalopathy and myopathy after treatment.
  • The recorded outcome domains were Neurological recovery; Severe MTHFR deficiency.

What this study can and cannot tell us

  • Single neonatal case; specialist treatment of an inherited disease does not establish infant or adult wellness use.
  • 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