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- Phenylketonuria (PKU) is a genetic condition due to a shortage of the enzyme phenylalanine hydroxylase.
- This deficiency leads to an accumulation of phenylalanine in the body, disrupting protein balance.
- Phenylalanine is found in all proteins and certain artificial sweeteners.
- The enzyme shortage hampers the conversion of phenylalanine into tyrosine, crucial for neurotransmitter production.
- PKU arises from a gene defect affecting the phenylalanine hydroxylase enzyme.
- Without this enzyme, the body cannot break down phenylalanine, resulting in its buildup.