PKU; Neonatal phenylketonuria
An enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done on the pregnant women 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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