Phenylketonuria

The incidence of PKU in the US is estimated to be about 1 in 20,000 newborns. The highest incidence is among white infants of European descent (1/5000 to 1/15,000 births).[2]Mitchell JJ, Scriver CR. Phenylalanine hydroxylase deficiency. In: Pagon RA, Bird TC, Dolan CR, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2000. http://www.ncbi.nlm.nih.gov/books/NBK1504 http://www.ncbi.nlm.nih.gov/pubmed/20301677?tool=bestpractice.com Black, Asian, and Hispanic infants are less commonly affected due to decreased carrier frequency. Global incidence data parallel what is observed in the US, with most European countries having an incidence of between 1 in 5000 and 1 in 15,000 births. An exception is Finland, where the disorder is extremely rare (1/200,000 births). The incidence in Japan has been estimated at 1 in 125,000. Data are not available from African populations. This is an autosomal-recessive disorder with males and females being equally affected. Newborn screening programs were initiated in the US in the mid- to late 1960s and, therefore, most patients receiving treatment in the US are <60 years of age. Most patients born before that time have intellectual disability.