Phenylketonuria

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Phenylketonuria test

Phenylketonuria test

PKU

Genetic counseling is recommended for prospective parents with a family history of PKU. The carrier state for PKU can be detected by enzyme assays, and PKU can be diagnosed prenatally.

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 phenylalanine will damage the unborn baby even if the child has not inherited the defective gene.

Review Date: 08/18/2006
Reviewed By: Benjamin W. Van Voorhees, MD, MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.