The incidence of inherited metabolic disorders in the West Midlands, UK

摘要: Background: Inherited metabolic disorders (IMDs) are a heterogeneous group of genetic conditions mostly occurring in childhood. They individually rare but collectively numerous, causing substantial morbidity and mortality. Aims: To obtain up-to-date estimates the birth prevalence IMDs an ethnically diverse British population to compare these with those other published population-based studies. Methods: Retrospective data from West Midlands Regional Diagnostic Laboratory for Metabolic Disorders (Birmingham, UK) 5 years (1999–2003) were examined. The 5.2 million is approximately 10% UK population. Approximately 11% region black ethnic minority groups compared 8% UK. Results: overall was 1 784 live births (95% confidence interval (CI) 619 970), based on total 396 new cases. most frequent diagnoses mitochondrial (1 4929; 95% CI 2776 8953), lysosomal storage 5175; 2874 9551), amino acid excluding phenylketonuria 5354; 2943 9990) organic 7962; 3837 17 301). Most (72%) made by age 15 one-third year. Conclusions: These results similar comparison studies, although higher this study. This probably due effects ethnicity consanguinity increasing ascertainment. study provides useful epidemiological information planning providing services patients IMDs, including newborn screening, populations.