ABSTRACT
Phenylketonuria (PKU) is an inborn error of metabolism, and its detrimental effects on neurocognitive functioning have been well studied. Early detection and treatment of PKU prevent the severe consequences of this disorder. However, even early- and well-treated patients experience hidden disabilities, including subtle deficits in executive functioning, mild reductions in mental processing speed, social difficulties, and emotional problems that may remain unnoticed for years. Poor executive function (EF) may impact treatment adherence and may lead to psychosocial deficits that are not always visible. These psychosocial aspects include social difficulties and psychosocial problems, such as forming interpersonal relationships, achieving autonomy, attaining educational goals, and having healthy emotional development. Studies report EF deficits in children and adults with early-treated PKU, which contribute significantly to the hidden disabilities in this population. In adults, hidden disabilities affect job performance and social relationships as a result of residual attention deficits, poor EF (e.g., planning, organizing), and reduced processing speed. An indirect relationship also exists between quality of life and EF impairment. In the absence of overt psychiatric symptoms, low level depressive or anxious symptom may be present. The interaction between the neurocognitive deficits and psychiatric symptoms puts this population of patients at significant risk for experiencing hidden disability. PKU is a disorder in which a less than optimal psychosocial outcome arises from the cumulative impact of relatively mild symptoms. The key to reducing risks associated with PKU is metabolic control throughout life.
