Tier 2 — strong

Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients

D E Wilcken, N P Dudman, P A Tyrrell
Metabolism: clinical and experimental 1985 34(12):1115-1121

Bibliography

PubMed
PMID 3934499
DOI
10.1016/0026-0495(85)90156-8
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

DesignBefore-and-after metabolic study
ModelHuman participants
Sample6 pyridoxine-responsive patients; 17 healthy comparators
InterventionBetaine 6 g/day added to pyridoxine and folic acid
DurationMethionine-load testing before and after treatment
EndpointsMethionine-load response; Homocysteine; Cysteine

What the study showed, in plain terms

Published in 1985, this source examined prescription betaine and inherited metabolic disorders. Design: Before-and-after metabolic study. Sample/model: 6 pyridoxine-responsive patients; 17 healthy comparators. The exposure or intervention was Betaine 6 g/day added to pyridoxine and folic acid. Follow-up or treatment period: Methionine-load testing before and after treatment.

Betaine brought exaggerated post-load homocysteine responses closer to normal, with variable methionine changes.

Small disease-specific physiological study; vascular event prevention was not directly measured.

Continue with TMG Data Center

Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • Betaine brought exaggerated post-load homocysteine responses closer to normal, with variable methionine changes.
  • The recorded outcome domains were Methionine-load response; Homocysteine; Cysteine.
  • The result applies to the tested exposure: Betaine 6 g/day added to pyridoxine and folic acid; Methionine-load testing before and after treatment.

What this study can and cannot tell us

  • Small disease-specific physiological study; vascular event prevention was not directly measured.
  • An individual controlled trial must be interpreted alongside its comparator, sample size, endpoint selection and independent replication. It does not validate a different commercial formulation or a general longevity claim.
  • Source basis: Indexed abstract and bibliographic data. Missing method details, funding information or participant denominators are not inferred.

Related papers in the corpus

Tier 2
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
Giorgia Olivieri et al. · Journal of inherited metabolic disease · 2026
Tier 2
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A M Morris et al. · Journal of inherited metabolic disease · 2017
Tier 4
Postauthorization safety study of betaine anhydrous
Ulrike Mütze et al. · Journal of inherited metabolic disease · 2022
Tier 4
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Bernd C Schwahn et al. · JIMD reports · 2020
Tier 2
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
Apolline Imbard et al. · Orphanet journal of rare diseases · 2022

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