BACKGROUND In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonuria and evaluated two hypotheses-the dopamine and the long-chain polyunsatura...

BACKGROUND phenylketonuria is an autosomal recessive disorder resulting from the mutation of a gene located in chromosome 12q22-24.1. AIM to describe the performance of children with classic phenylketonuria, who were diagnosed and treated early, in the Development Screening Test Denver - II. METHOD participants were 20 children with phenylketonuria, ranging in age from 3 and 6 years, and 10...

A report is made of cases of phenylketonuria detected at Bangalore along with experiences in the dietary therapy and management of the cases. The need for early detection and early dietary intervention is indicated.

Despite early and continuous dietary intervention, individuals with early-treated phenylketonuria (PKU) experience significant neurocognitive sequelae. An area of cognitive ability that is believed to be particularly affected is executive function (EF). This paper provides a critical review of the evidence for EF impairment in early-treated PKU within the context of recent advances in neuropsyc...

Phenylketonuria (PKU) is an inborn error of metabolism involving a deficiency of the enzyme phenylalanine hydroxylase. This condition results in elevated levels of phenylalanine and low levels of tyrosine. If left untreated, severe neuropathology and neurobehavioral sequelae manifest. The implementation of newborn screening and early dietary treatment has significantly reduced such morbidity. D...

A sample of 99 early treated phenylketonuric children showed higher levels of behavioural deviance than 197 matched controls. For boys this excess of behavioural deviance persisted when IQ was taken into account. For phenylketonuric girls however it was restricted to those with IQs less than 70. The type of behavioural deviance shown by the boys over the whole IQ range was predominantly neuroti...

This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low-phenylalanine diets in combination with amino acid medical foods and glycomacropeptide medical foods for 3 weeks each in a crossover design. The sa...