Phenylketonuria
Alternative names:
PKU
Prevention:
Genetic counseling is recommended for prospective parents with a family history of phenylketonuria. The carrier state for PKU can be detected by enzyme assays and PKU can be diagnosed prenatally. Screening immediately after birth is done routinely in all U.S. hospitals.
It is imperative that mothers with PKU who becomes pregnant adhere 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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