ArticleJournal of inherited metabolic disease2021
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Article in Journal of inherited metabolic disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 43 citations in OpenAlex.
- Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.Orphanet journal of rare diseases · 2022Trial
- Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.International journal of neonatal screening · 2026Article
- Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.Molecular genetics and metabolism reports · 2025Article
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice.Journal of inherited metabolic disease · 2025Article
- "My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective.Orphanet journal of rare diseases · 2025Article
- Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.Journal of inherited metabolic disease · 2025Article
- Homocysteine Thiolactone Detoxifying Enzymes and Alzheimer's Disease.International journal of molecular sciences · 2024Review
- Article
- Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein.Biomedicines · 2024Article
- Review
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
- Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.Nutrients · 2023Article
- Article
- Paracetamol toxicity in classic homocystinuria: Effect ofJIMD reports · 2023Article
- Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.Children (Basel, Switzerland) · 2023Article
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.British journal of pharmacology · 2023Review
- Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants.Molecular and cellular biology · 2023Article
- Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice.PloS one · 2023Article
- Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.Frontiers in endocrinology · 2022Review
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Authors and funding
12 authors at 7 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient-years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine-responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long-term complications.
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