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Phenylketonuria


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Phenylketonuria

Alternative Names:

PKU
Prevention:

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 imperative that a woman with PKU who becomes pregnant adheres closely to the special low-phenylalanine diet, since accumulation of phenylalanine will damage the unborn baby even if the baby has not inherited the abnormality.
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