SynthesisJournal of inherited metabolic disease2017
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Synthesis in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 166 papers, 2 of them syntheses that pooled it.
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Who cites it
166 citing papers in PubMed, 2 syntheses or guidelines pooled it, 324 citations in OpenAlex.
- Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.Journal of inherited metabolic disease · 2025Pooled it
- The role of homocysteine levels as a risk factor of ischemic stroke events: a systematic review and meta-analysis.Frontiers in neurology · 2023Pooled it
- Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.Orphanet journal of rare diseases · 2022Trial
- Trial
- Homocystinuria symptomatology collected through an international patient-report data program as a source for natural history data.Molecular genetics and metabolism reports · 2026Article
- Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.Journal of inherited metabolic disease · 2026Article
- Recorded ocular diagnoses in adults with homocystinuria: A propensity score-matched cohort study.AJO international · 2026Article
- Article
- Diet-Induced Hyperhomocysteinemia in C57BL/6 Mice: Simultaneous Evaluation of Plasma Homocysteine, Methionine, and Cysteine by LC-MS/MS and Assessment of Associated Oxidative Stress in Brain Homogenates.Antioxidants (Basel, Switzerland) · 2026Article
- Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.International journal of neonatal screening · 2026Article
- Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.Pediatric research · 2026Article
- Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance.JIMD reports · 2026Article
- Delay in Diagnosis of Classical Homocystinuria.JIMD reports · 2026Article
- Betaine Attenuates Hyperhomocysteinemia-Induced Cognitive Impairment by Suppressing Oxidative Stress and Activating the PI3K/AKT/GSK-3β Pathway.Antioxidants (Basel, Switzerland) · 2026Article
- Article
- Ocular Clues to Liver Disease: A Strategic Diagnostic Lens.Diseases (Basel, Switzerland) · 2026Review
- Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.International journal of molecular sciences · 2026Article
- The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child.BMC medical genomics · 2026Article
- The Role of Estradiol in Oxidative Stress in Health and Cystathionine ß-Synthase Deficiency: A Mechanistic Model.CPT: pharmacometrics & systems pharmacology · 2026Article
- Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.Pediatric research · 2026Article
106 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 20 institutions in 13 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.