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Phenylketonuria

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Atlas of Genetic Diagnosis and Counseling

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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 one in 10,000, giving a heterozygote frequency of one in 50 to one in 70. About one in 15,000 infants is born with PKU in the United States.

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  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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Chen, H. (2016). Phenylketonuria. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_191-2

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