Tier 4 — mechanistic

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine

D E Wilcken, B Wilcken, N P Dudman, P A Tyrrell
The New England journal of medicine 1983 309(8):448-453

Bibliography

PubMed
PMID 6877313
DOI
10.1056/NEJM198308253090802
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

DesignClinical case series
ModelHuman participants
Sample11 patients; 10 CBS-deficient and 1 cobalamin-metabolism defect
InterventionBetaine 6 g/day added to conventional therapy
DurationClinical treatment follow-up
EndpointsHomocysteine; Cysteine; Clinical response

What the study showed, in plain terms

Published in 1983, this source examined prescription betaine and inherited metabolic disorders. Design: Clinical case series. Sample/model: 11 patients; 10 CBS-deficient and 1 cobalamin-metabolism defect. The exposure or intervention was Betaine 6 g/day added to conventional therapy. Follow-up or treatment period: Clinical treatment follow-up.

All patients had substantial homocysteine reductions; several also showed early clinical improvement.

Uncontrolled historical series with mixed diagnoses and background treatment; it cannot establish the effect in healthy adults.

Continue with TMG Data Center

Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • All patients had substantial homocysteine reductions; several also showed early clinical improvement.
  • The recorded outcome domains were Homocysteine; Cysteine; Clinical response.

What this study can and cannot tell us

  • Uncontrolled historical series with mixed diagnoses and background treatment; it cannot establish the effect in healthy adults.
  • 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.

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