The frequency of inherited metabolic disorders in the West Midlands, United Kingdom

Simon Sanderson ^1*, Anne Green ², Maryanne Preece ² and Hilary Burton ³

¹ University of Cambridge, United Kingdom
² Birmingham Children's Hospital, United Kingdom
³ Public Health Genetics Unit, United Kingdom

^* To whom correspondence should be addressed. E-mail: simon.sanderson{at}srl.cam.ac.uk.

Accepted 28 April 2006

Abstract

Inherited metabolic disorders are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous and cause substantial morbidity and mortality. Our aims in this study were to obtain up-to-date estimates of the birth prevalence of these disorders in an ethnically diverse British population and to compare these with other published population-based studies. We examined retrospective data for the 5 years 1999-2003 from the West Midlands Regional Diagnostic Laboratory for Inherited Metabolic Disorders. The West Midlands population of 5.2 million is approximately 10% of the United Kingdom population. Around 11% of the population region is from Black and Ethnic Minority groups, compared with 8% for the United Kingdom. The overall birth prevalence was 1 in 784 live births (95% CI 619-970), based on a total of 396 new cases. The most frequent disorders were mitochondrial (1 in 4,929; 95%CI 2,776-8,953), lysosomal storage (1 in 5,175; 95%CI 2,874-9,551), amino acid excluding PKU (1 in 5,354; 95%CI 2,943-9,990), and organic acids (1 in 7,962; 95%CI 3,837-17,301). The majority of diagnoses (72%) were made by the age of 15 years and one third by the age of 1 year. These results are very similar to the comparison studies, although the overall birth prevalence is higher in this study. This is probably due to the impact of ethnicity and consanguinity and increasing ascertainment. This study provides useful epidemiological information for those planning and providing services for patients with inherited metabolic disorders, including newborn screening, in the United Kingdom and similar populations.

Keywords: diagnosis, epidemiology, incidence, inherited metablic disorders

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