Tier 4 — mechanistic

Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment

Andrew A M Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Carlo Dionisi-Vici, Matthias R Baumgartner, Luciana Hannibal, Henk J Blom, Martina Huemer, Viktor Kožich, E‐HOD Consortium
Journal of inherited metabolic disease 2025 48(1):e12844

Bibliography

PubMed
PMID 40095936
PubMed Central
PMC11729643
DOI
10.1002/jimd.12844
Funding
Reported funding/support: Ministry of Health of the Czech Republic 10.13039/501100003243NU23‐07‐00383General University Hospital in Prague 10.13039/501100016366RVO‐VFN64165Charles University 10.13039/100007397Cooperatio‐MetabolicDisorders
Competing interests
Reported disclosure: Andrew A. M. Morris received an honorarium for a lecture from Travere and subsequently provided consultancy to Travere, for which honoraria were paid to E‐HOD funds. Stefan Kölker declares that a Dietmar Hopp Foundation grant was awarded to his institution. Carlo Dionisi‐Vici received consulting fees from Mamoxi and participated in Advisory Board of Nutricia and Vitaflo. Matthias R. Baumgartner declares that a research grant from Nutricia Milupa GmbH was awarded to his institution. Martina Huemer declares consultancy honoraria or travel support from Nutricia Metabolics, Sanofi, Chiesi and Immedica Pharma, all unrelated to this work. Her institution has received unrestricted research grants from Nutricia Metabolics, Sanofi and Travere. Viktor Kožich provided consultancy to GAIN Therapeutic and Travere, honoraria were paid to E‐HOD funds. The other authors declare no conflicts of interest. E‐HOD has been receiving support for its activities from Aeglea, Gain Therapeutic, Nutricia Metabolics, Recordati, SOBI, Travere and Vitaflo. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.

Study snapshot

DesignObservational registry analysis
ModelHuman participants
Sample311 patients with CBS deficiency
InterventionDietary and pharmacological management, including prescription betaine
DurationRegistry follow-up
EndpointsHomocysteine control; Treatment patterns; Thromboembolism; Lens dislocation

What the study showed, in plain terms

Published in 2025, this source examined prescription betaine and inherited metabolic disorders. Design: Observational registry analysis. Sample/model: 311 patients with CBS deficiency. The exposure or intervention was Dietary and pharmacological management, including prescription betaine. Follow-up or treatment period: Registry follow-up.

Many nonresponsive or partially responsive patients remained above homocysteine targets. Earlier detection and treatment were associated with fewer major complications.

Nonrandomized multi-treatment registry; differences in adherence and disease severity complicate dose comparisons and causal attribution.

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Key findings

  • Many nonresponsive or partially responsive patients remained above homocysteine targets.
  • Earlier detection and treatment were associated with fewer major complications.
  • The recorded outcome domains were Homocysteine control; Treatment patterns; Thromboembolism; Lens dislocation.
  • The exposure was observed rather than assigned as an isolated supplement treatment.

What this study can and cannot tell us

  • Nonrandomized multi-treatment registry; differences in adherence and disease severity complicate dose comparisons and causal attribution.
  • Confounding, dietary patterns, illness, medication use and reverse causation can influence an association. Blood or dietary concentrations do not identify the effect of starting a capsule.
  • 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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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A M Morris et al. · Journal of inherited metabolic disease · 2017
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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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Apolline Imbard et al. · Orphanet journal of rare diseases · 2022

Editorial review

Reviewed by the Biohack Blueprint research team

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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