Rare diseases remain a formidable public health challenge. The key to unlocking
breakthroughs in diagnosis and treatment is fostering dynamic international partnerships …

Abstract Purpose Elevated serum phenylalanine (Phe) levels due to biallelic pathogenic
variants in phenylalanine hydroxylase (PAH) may cause neurodevelopmental disorders or …

Patients with phenylketonuria (PKU) are reliant on special low protein foods (SLPFs) as part
of their dietary treatment. In England, several issues regarding the accessibility of SLPFs …

There is an increasing number of adults and elderly patients with phenylketonuria (PKU)
who are either early, late treated, or untreated. The principal treatment is a phenylalanine …

In the category of rare inherited genetic disorders, phenylketonuria is a prominent example.
Here, the defective phenylalanine hydroxylase enzyme fails to catalyze conversion of …

Importance Recent changes in China's social medical insurance reimbursement policy have
impacted the financial burden of patients with phenylketonuria (PKU) for special foods …

Phenylketonuria is an inborn error of phenylalanine metabolism caused by a phenylalanine
hydroxylase deficiency. To prevent the occurrence of neurological symptoms and maternal …

Abstract Background & Objectives This study aims to explore and elucidate parents'
experience of newborn screening [NBS], with the overarching goal of identifying desiderata …

Background Pegvaliase, an enzyme substitution therapy, is a treatment option for
phenylketonuria (PKU). Due to the neuropathophysiology and disease burden of PKU …

Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low
phenylalanine (Phe) diet with protein substitutes/medical foods) to maintain blood Phe …