Disease management ineffectiveness

Phenylketonuria is the exemplar of the effectiveness of newborn screening as it was the first inherited metabolic disease in which individuals were identified by newborn screening and treated with diet before the development of intellectual disability associated with untreated PKU [5-7]. If left untreated or ineffectively managed, PKU can cause severe intellectual disability, as well as complex neurological and behavioral disorders. Severely affected patients are unable to live independently, often requiring specialized and continuous supervised care. Conversely, early and continuously treated patients typically have normal or nearly normal cognitive development. 

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