ArticleMolecular genetics & genomic medicine2020
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 43 citations in OpenAlex.
- Recorded ocular diagnoses in adults with homocystinuria: A propensity score-matched cohort study.AJO international · 2026Article
- Bilateral lens subluxation in a patient with homocystinuria: a case report.American journal of ophthalmology case reports · 2026Article
- Delay in Diagnosis of Classical Homocystinuria.JIMD reports · 2026Article
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report.The Journal of international medical research · 2025Article
- Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study.Annals of medicine and surgery (2012) · 2025Article
- Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study.Molecular genetics and metabolism reports · 2025Article
- High clinical burden of classical homocystinuria in the United States: a retrospective analysis.Orphanet journal of rare diseases · 2025Article
- Article
- Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.Frontiers in neurology · 2025Article
- Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions.Genetics in medicine open · 2024Article
- An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.Genetics and molecular biology · 2024Article
- Article
- Selective HepaticInternational journal of molecular sciences · 2023Article
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.British journal of pharmacology · 2023Review
- Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy.Journal of clinical medicine research · 2023Review
- How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.Human genetics · 2022Review
- Case report: Spontaneous bilateral intraocular lens dislocation in a patient with homocystinuria.Frontiers in cardiovascular medicine · 2022Article
- Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.Frontiers in neurology · 2022Article
- Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.International journal of neonatal screening · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBiallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39-1.73:100,000] according to clinical records and 1.09:100,000 [95% CI, 0.34-3.55:100,000] by neonatal screening. In this study, we aimed to estimate the minimal worldwide incidence of HCU.
methodsThe 25 most common pathogenic alleles of HCU were identified through a literature review. The incidence of HCU was estimated based on the frequency of these common pathogenic alleles in a large genomic database (gnomAD).
resultsThe minimum worldwide incidence of HCU was estimated to be ~0.38:100,000, and the incidence was higher in Europeans non-Finnish (~0.72:100,000) and Latin Americans (~0.45:100,000) and lower in Africans (~0.20:100,000) and Asians (~0.02:100,000).
conclusionOur data are in accordance with the only published metanalysis on this topic. To our surprise, the observed incidence of HCU in Europeans was much lower than those described in articles exploring small populations from northern Europe but was similar to the incidence described on the basis of neonatal screening programs. In our opinion, this large dataset analyzed and its population coverage gave us greater precision in the estimation of incidence.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.