Tier 2 — strong

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Andrew A M Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I M Ben-Omran, Anupam B Chakrapani, Ellen Crushell, Mick J Henderson, Michel Hochuli, Martina Huemer, Miriam C H Janssen, Francois Maillot, Philip D Mayne, Jenny McNulty, Tara M Morrison, Helene Ogier, Siobhan O'Sullivan, Markéta Pavlíková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J Blom, Kimberly A Chapman
Journal of inherited metabolic disease 2017 40(1):49-74

Bibliography

PubMed
PMID 27778219
PubMed Central
PMC5203861
DOI
10.1007/s10545-016-9979-0
Funding
Reported funding/support: European Commission Health Program 2012_12_02YapSufin
Competing interests
Reported disclosure: Compliance with ethical standards Competing interests The authors of these guidelines declare no competing interests but disclose the following: Andrew Morris, Tawfeg Ben-Omran, Anupam Chakrapani, Ellen Crushell, Martina Huemer, Sufin Yap, Henk Blom and Kimberly Chapman have received honoraria for lectures and/or hotel/travel expenses for relevant meetings from Orphan Europe or the Recordati Rare Disease Foundation. Henk Blom has received a research grant from Orphan Europe. Charles University in Prague-First Faculty of Medicine received support from the Recordati Rare Disease Foundation for organizing an educational course on homocystinurias and methylation defects, and reimbursement for laboratory analyses from Orphan Technologies. HCU Network Australia has received sponsorship from Orphan Technologies and support from the Recordati Rare Disease Foundation for a patient expert meet.

Study snapshot

DesignClinical practice guideline
ModelEvidence synthesis; mixed research models
SampleSystematic review and expert guidance for CBS deficiency
InterventionDiet, pyridoxine and prescription betaine selected by treatment response
DurationLong-term disease management
EndpointsDiagnosis; Homocysteine targets; Treatment and monitoring

What the study showed, in plain terms

Published in 2017, this source examined prescription betaine and inherited metabolic disorders. Its evidence base was Systematic review and expert guidance for CBS deficiency. It evaluated Diet, pyridoxine and prescription betaine selected by treatment response across Long-term disease management.

The guideline supports betaine and/or methionine restriction for appropriate CBS-deficient patients, with monitoring of total homocysteine and methionine.

Many recommendations rely on low-quality rare-disease evidence and specialist consensus; they are not healthy-adult supplement guidance.

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Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • The guideline supports betaine and/or methionine restriction for appropriate CBS-deficient patients, with monitoring of total homocysteine and methionine.
  • The recorded outcome domains were Diagnosis; Homocysteine targets; Treatment and monitoring.

What this study can and cannot tell us

  • Many recommendations rely on low-quality rare-disease evidence and specialist consensus; they are not healthy-adult supplement guidance.
  • 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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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