Epidemiology

The prevalence of phenylketonuria (PKU) in the US is estimated to be about 1 in 25,000 newborns.[3][4]​ Black, Asian, and Hispanic infants are less commonly affected due to decreased carrier frequency.[5]​ Global data parallel what is observed in the US, with a global prevalence 1:23,930 live births.[4]​ PKU prevalence is highest in Europe, with most European countries having an incidence of between 1 in 5000 and 1 in 15,000 births.[3][4]​​ An exception is Finland, where the disorder is extremely rare (1 in 112,000 births).[4] Asian countries have the lowest reported PKU such as Japan (1 in 125,000), Philippines (1 in 116,006), Singapore (1 in 83,333), and Thailand (1 in 227,273).[3][4]​ China is the exception (1 in 15,924), where PKU prevalence is comparable to that in Europe.[3][4]​ Data are not available from parts of Africa, Asia, South America, and Caribbean populations.[4] This is an autosomal-recessive disorder with males and females being equally affected. Newborn screening programmes were initiated in the US in the mid- to late 1960s.[6] Most individuals with PKU born before that time have intellectual disability.[3]

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