Phenylketonuria (PKU) is primarily a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, but environmental factors can influence its management. Dietary intake is crucial, as individuals with PKU must avoid high-phenylalanine foods, such as those containing protein. Additionally, factors like access to specialized medical care, availability of low-phenylalanine food products, and adherence to a strict diet can significantly impact the health and development of individuals with PKU. Environmental stresses, such as pregnancy or illness, can also affect phenylalanine levels and overall management of the condition.
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