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PKU; Neonatal phenylketonuria
Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
Other symptoms may include:
If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body.
PKU can be easily detected with a simple blood test. All states in the US require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.
If the initial screening test is positive, further blood and urine tests are required to confirm the diagnosis.
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Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun 2006; 33(2): 411-79.
Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. Oct 2005; 33(4): 267-71.
Welch T. Dietary management of mothers with PKU during pregnancy. J Pediatr. Feb 2004; 144(2); 1A.
Welch TR. Pharmacologic approach to PKU? J Pediatr. Jun 2007; 150(6); A3.
Screening for phenylketonuria (PKU): US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6:166.
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