Abstract
Classical phenylketonuria (PKU) is a rare metabolic disorder, resulting from a deficiency of a liver enzyme, phenylalanine hydroxylase. The deficiency of the enzyme leads to elevated phenylalanine (Phe) levels in the blood and various tissues including the brain. The incidence in Caucasians is approximately 1 in 10,000, giving a heterozygote frequency of 1 in 50 to 1 in 70. About one in 15,000 infants is born with PKU in the United States.
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CITATION STYLE
APA
Chen, H. (2006). Phenylketonuria (PKU). In Atlas of Genetic Diagnosis and Counseling (pp. 788–792). Humana Press. https://doi.org/10.1007/978-1-60327-161-5_148
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