Adherence to Treatment of Phenylketonuria

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study comp...

Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation

INTRODUCTION Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment. AIMS 1. Analyze how treatment adherence evolves through infancy, childhood, and early adolescence in individuals with PKU. 2. Identify...

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.

Phenylketonuria (PKU) is an inborn error in phenylalanine metabolism due to deficiency of the enzyme, phenylalanine hydroxylase (PAH). Treatment includes restriction of dietary phenylalanine, and in some individuals, supplementation with the PAH cofactor, tetrahydrobiopterin (sapropterin dihydrochloride). A survey was conducted among patients with PKU who had been prescribed sapropterin to asse...

Treatment of classical phenylketonuria.

This paper presents some observations on the dietary treatment of phenylketonuric children seen in Glasgow during the past decade. Both the efficacy of the low phenylalanine diet in preventing brain damage (Bessman, 1966), and the adequacy of diagnostic criteria when applied in early infancy (Schneider and Garrard, 1966; Stephenson and McBean, 1967a) have recently been questioned. We therefore ...

The Effect of Information Therapy on Treatment Adherence among Patients Referred to Addiction Treatment Centers