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PKU; Neonatal phenylketonuria
An enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done during pregnancy to screen the unborn baby for PKU.
It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy, since build-up of this substance will damage the developing baby even if the child has not inherited the defective gene.
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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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