OBJECTIVE Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executi...

Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed. The cause of PKU is defective function of ...

The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem ...

We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20 mg/kg/day) in addition to reduced low-phenylalanine di...

objectives: this study aimed to investigate the level of problem-solving skills in 1-4 year-old children with early treated phenylketonuria (etpku). methods:this analytic, cross-sectional study was conducted on 70 1-4 year-old children referred to phenylketonuria (pku) clinics that had been diagnosed on screening at birth and had been treated. the measurements were a demographic questionnaire, ...

The brain damage which occurs in untreated phenylketonuria probably results from the high plasma phenylalanine concentration prevailing in this condition, as treatment with a low-phenylalanine diet mitigates the situation. The actual cause of the brain damage is not known, but investigations have been carried out with high phenylalanine loads to simulate phenylketonuria and so elucidate the nat...