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Are there some prenatal tests for phenylketonuria (pku), or just the newborn screening test?

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Dr. Touraj Shafai
Pediatrics

In brief: Prenatal Dx of PKU

Phenylketonuria, pku is the result of the deficiency of the enzyme phenylalanine hydoxylase which converts phenylalanine to tyrosine.
There is a prenatal test available to detect this enzyme deficiency. However there are rare forms of pku that result from cofactor deficiency or other enzymes that are involved in the conversion of phenylalanie to tyrosine. Pku is not a fatal genetic defect.

In brief: Prenatal Dx of PKU

Phenylketonuria, pku is the result of the deficiency of the enzyme phenylalanine hydoxylase which converts phenylalanine to tyrosine.
There is a prenatal test available to detect this enzyme deficiency. However there are rare forms of pku that result from cofactor deficiency or other enzymes that are involved in the conversion of phenylalanie to tyrosine. Pku is not a fatal genetic defect.
Dr. Touraj Shafai
Dr. Touraj Shafai
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