Phenylketonuria

Globally, PKU has an incidence of around 1 in 20,000 newborns. The highest incidence of PKU is seen 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 An exception is Finland, where the disorder is extremely rare (1/200,000 births). Black, Asian, and Hispanic infants are less commonly affected due to decreased carrier frequency. 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 programmes were initiated in developed countries in the mid- to late 1960s and, therefore, most patients receiving treatment are <60 years of age. Most patients born before that time have intellectual disability.