Tier 4 — mechanistic

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency

Reza Yaghmai, Amir H Kashani, Michael T Geraghty, Jay Okoh, Martin Pomper, Albert Tangerman, Conrad Wagner, Sally P Stabler, Robert H Allen, S Harvey Mudd, Nancy Braverman
American journal of medical genetics 2002 108(1):57-63

Bibliography

PubMed
PMID 11857551
DOI
10.1002/ajmg.10186
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 child with B6-nonresponsive CBS deficiency
InterventionBetaine treatment with inadequate dietary methionine restriction
DurationClinical episode during treatment
EndpointsMethionine excess; Cerebral edema

What the study showed, in plain terms

Published in 2002, this source examined prescription betaine and inherited metabolic disorders. Design: Case report. Sample/model: One child with B6-nonresponsive CBS deficiency. The exposure or intervention was Betaine treatment with inadequate dietary methionine restriction. Follow-up or treatment period: Clinical episode during treatment.

Extremely high methionine accompanied severe cerebral edema without thrombosis.

A single case cannot determine risk frequency. It highlights the need for specialist metabolic monitoring rather than defining a general supplement risk.

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Key findings

  • Extremely high methionine accompanied severe cerebral edema without thrombosis.
  • The recorded outcome domains were Methionine excess; Cerebral edema.

What this study can and cannot tell us

  • A single case cannot determine risk frequency. It highlights the need for specialist metabolic monitoring rather than defining a general supplement risk.
  • 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

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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