Tier 4 — mechanistic

Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency

Akiko Sakamoto, Nobuo Sakura
Pediatrics international : official journal of the Japan Pediatric Society 2003 45(3):333-338

Bibliography

PubMed
PMID 12828591
DOI
10.1046/j.1442-200x.2003.01714.x
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

DesignLongitudinal case series
ModelHuman participants
Sample2 CBS-deficient patients; 63 samples
InterventionBetaine treatment assessed against circulating methionine
Duration2 years
EndpointsHomocysteine; Methionine; Treatment response

What the study showed, in plain terms

Published in 2003, this source examined prescription betaine and inherited metabolic disorders. Design: Longitudinal case series. Sample/model: 2 CBS-deficient patients; 63 samples. The exposure or intervention was Betaine treatment assessed against circulating methionine. Follow-up or treatment period: 2 years.

Homocysteine lowering was more limited when methionine remained high, despite adequate circulating betaine.

Two patients cannot define universal thresholds; the study supports considering diet and methionine alongside betaine exposure.

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Key findings

  • Homocysteine lowering was more limited when methionine remained high, despite adequate circulating betaine.
  • The recorded outcome domains were Homocysteine; Methionine; Treatment response.

What this study can and cannot tell us

  • Two patients cannot define universal thresholds; the study supports considering diet and methionine alongside betaine exposure.
  • 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