ArticleArchives of disease in childhood2006
The incidence of inherited metabolic disorders in the West Midlands, UK.
Article in Archives of disease in childhood, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers.
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Who cites it
112 citing papers in PubMed, 253 citations in OpenAlex.
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- Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.Annals of African medicine · 2026Review
- Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.Molecular genetics and metabolism reports · 2026Article
- Inherited Metabolic Disorders in India: Progress and Priorities.Indian journal of pediatrics · 2026Article
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.Neurology · 2026Article
- Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation.World journal of transplantation · 2026Review
- Correction of a recurrent pathogenic variant in methylmalonic acidemia using adenine base editing.bioRxiv : the preprint server for biology · 2026Article
- Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.Annals of neurology · 2026Article
- Review
- Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience.Journal of clinical medicine · 2025Article
- Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.International journal of neonatal screening · 2025Review
- Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.BMC medical genomics · 2025Article
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
- Review
- Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.Orphanet journal of rare diseases · 2025Article
- The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!Journal of inherited metabolic disease · 2025Review
- Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.Sisli Etfal Hastanesi tip bulteni · 2025Article
- Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Article
52 more citing papers are in PubMed but not listed here.
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4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited metabolic disorders (IMDs) are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous, causing substantial morbidity and mortality.
aimsTo obtain up-to-date estimates of the birth prevalence of IMDs in an ethnically diverse British population and to compare these estimates with those of other published population-based studies.
methodsRetrospective data from the West Midlands Regional Diagnostic Laboratory for Inherited Metabolic Disorders (Birmingham, UK) for the 5 years (1999-2003) were examined. The West Midlands population of 5.2 million is approximately 10% of the UK population. Approximately 11% of the population of the region is from black and ethnic minority groups compared with approximately 8% for the the UK.
resultsThe overall birth prevalence was 1 in 784 live births (95% confidence interval (CI) 619 to 970), based on a total of 396 new cases. The most frequent diagnoses were mitochondrial disorders (1 in 4929; 95% CI 2776 to 8953), lysosomal storage disorders (1 in 5175; 95% CI 2874 to 9551), amino acid disorders excluding phenylketonuria (1 in 5354; 95% CI 2943 to 9990) and organic acid disorders (1 in 7962; 95% CI 3837 to 17 301). Most of the diagnoses (72%) were made by the age of 15 years and one-third by the age of 1 year.
conclusionsThese results are similar to those of the comparison studies, although the overall birth prevalence is higher in this study. This is probably due to the effects of ethnicity and consanguinity and increasing ascertainment. This study provides useful epidemiological information for those planning and providing services for patients with IMDs, including newborn screening, in the UK and similar populations.
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