A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.

摘要: OBJECTIVE: To assess birth and gene frequencies of specific autosomal recessively inborn errors metabolism (IEM) within different ethnic groups. DESIGN: Retrospective study in a regional centre for investigation treatment IEM. SUBJECTS: All children born the West Midlands NHS Region, UK, during decade immediately preceding 1991 National Census. METHODS: Birth individual IEM were calculated separately main groups using data from Neonatal Screening Programme, register patients, population Gene previously documented observations on parental consanguinity rates inbreeding coefficients. RESULTS: The overall incidence recorded was tenfold higher among Pakistanis compared to white (1:318 v 1:3760), whereas only one AfroCaribbean child identified (incidence 1:16 887). Tyrosinaemia type 1, cystinosis, mucopolysaccharidosis non-ketotic hyperglycinaemia, hyperchylomicronaemia all occurred more frequently Pakistanis. An increased frequency confirmed tyrosinaemia. phenylketonuria similar Pakistani (1:14 452 1:12 611), but significantly lower (1:713 1:112). These results illustrate interplay between determining disease populations, indicate anticipated absence consanguineous marriage. figures have implications organisation services management errors, genetic counselling, assessment flow world populations.