PKUlike
PKUlike is a term used in medical literature to describe dispositions that resemble phenylketonuria (PKU) in their biochemical profile and clinical features but arise from disorders other than mutations in the PAH gene. In these cases, elevated blood phenylalanine levels and related cognitive risks can occur due to problems in phenylalanine metabolism that are not classic PKU. The concept helps clinicians recognize that hyperphenylalaninemia can have diverse etiologies requiring different diagnostic and therapeutic approaches.
The causes of PKUlike conditions are mainly related to defects in tetrahydrobiopterin (BH4) metabolism or transport,
Diagnosis relies on newborn screening that detects elevated phenylalanine, followed by biochemical and genetic tests to
Prognosis improves with early detection and treatment, emphasizing newborn screening and tailored management plans. See also