Alterations in brain structure are frequently observed in adults with early‐treated
phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being …

Background Continued dietary treatment since early diagnosis through newborn screening
programs usually prevents brain-related complications in phenylketonuria (PKU). However …

Background Phenylketonuria (PKU) is a rare inborn error of metabolism characterized by
impaired catabolism of the amino acid phenylalanine (Phe) into tyrosine. Cross-sectional …

Phenylketonuria is a rare metabolic disease resulting from a deficiency of the enzyme
phenylalanine hydroxylase. Recent cross-sectional evidence suggests that early-treated …

Patients with phenylketonuria (PKU) present signs of impaired executive functioning and
bone health in adolescence and adulthood, depending in part on the success of therapy in …

Background Phenylketonuria (PKU) represents a congenital metabolic defect that disrupts
the process of converting phenylalanine (Phe) into tyrosine. Earlier investigations have …

Despite numerous studies in human patients and animal models for phenylketonuria (PKU;
OMIM# 261600), the pathophysiology of PKU and the underlying causes of brain …

Background Our comprehension of the interplay of cognition and the brain remains
constrained. While functional imaging studies have identified cognitive brain regions …

The first cohort of early-treated adults with phenylketonuria (PKU) is reaching middle-age
and moving towards old age. We do not know if and how the effects of an aging brain may …

Background Due to newborn screening and early treatment, patients with phenylketonuria
(PKU) and mild hyperphenylalaninemia (mHPA) develop largely normal, in terms of IQ …