Tier 4 — mechanistic

Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review)

Ayman A Althubity
Molecular medicine reports 2026 33(1):34

Bibliography

PubMed
PMID 41235668
PubMed Central
PMC12612801
DOI
10.3892/mmr.2025.13745
Funding
Reported funding/support: No funding was received.
Competing interests
Reported disclosure: The author declares that they have no competing interests.

Study snapshot

DesignNarrative review
ModelEvidence synthesis; mixed research models
SampleConventional and emerging homocystinuria therapies
InterventionDiet, vitamins, betaine and investigational enzyme/gene approaches
DurationReview incorporating developments through early 2025
EndpointsHomocystinuria; Emerging therapies; Treatment limitations

What the study showed, in plain terms

Published in 2026, this source examined prescription betaine and inherited metabolic disorders. Its evidence base was Conventional and emerging homocystinuria therapies. It evaluated Diet, vitamins, betaine and investigational enzyme/gene approaches across Review incorporating developments through early 2025.

Summarizes the limitations of existing care and the development of metabolic and molecular therapies.

Narrative review with mixed-stage evidence; discussion of experimental therapies is not proof of clinical efficacy.

Continue with TMG Data Center

Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • Summarizes the limitations of existing care and the development of metabolic and molecular therapies.
  • The recorded outcome domains were Homocystinuria; Emerging therapies; Treatment limitations.

What this study can and cannot tell us

  • Narrative review with mixed-stage evidence; discussion of experimental therapies is not proof of clinical efficacy.
  • The conclusions inherit the limitations of the underlying studies. A narrative interpretation or guideline recommendation is not a new randomized treatment comparison.
  • Source basis: Accessible full-text extract plus indexed bibliographic data. Missing method details, funding information or participant denominators are not inferred.

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Postauthorization safety study of betaine anhydrous
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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
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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