The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England
| Autor: | M. Cleary, H. Jones, C. R. Scriver, Mario Cortina-Borja, Pia Hardelid, A. Munro, M. P. Champion, Carol Dezateux, Y. Foo |
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| Rok vydání: | 2008 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Linkage disequilibrium Population Ethnic group Black People Biology White People Asian People Pregnancy Phenylketonurias Genetics South east medicine Prevalence Humans Allele education Genetics (clinical) Newborn screening education.field_of_study Haplotype Infant Newborn nutritional and metabolic diseases medicine.disease Genetics Population England Inborn error of metabolism Female Demography |
| Zdroj: | Annals of human genetics. 72(Pt 1) |
| ISSN: | 0003-4800 |
| Popis: | Summary Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600). Treatment with a low-phenylalanine diet following early ascertainment by newborn screening prevents impaired cognitive development, themajor disease phenotype in PKU. The overall birth prevalence of PKU in European, Chinese and Korean populations is ∼ 1/10,000. Since the human PAH locus contains PKU-causing alleles and polymorphic core haplotypes that describeand corroborate an out-of-Africa range expansion in modern human populations, it is of interest to know the prevalenceof PKU in different ethnic groups with diverse geographical origin. We estimated PKU prevalence in South East England,where a sizeable proportion of the population are of Sub-Saharan African or South Asian ancestry. Over the period 1994to 2004 167 children were diagnosed with PKU. Using birth registration and census data to derive denominators, PKUbirth prevalence per 10,000 live births (95% Bayesian credible intervals) was estimated to be 1.14 (0.96–1.33) amongwhite, 0.11 (0.02–0.37) among black, and 0.29 (0.10–0.63) among Asian ethnic groups. This suggests that PKU is upto an order of magnitude less prevalent in populations with Sub-Saharan African and South Asian ancestry that havemigrated to the UK.Keywords: phenylketonuria, prevalence, ethnic groups |
| Databáze: | OpenAIRE |
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