Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with treatment may result in damage of the brain function. Brain abnormalities can be seen on magnetic res...

this experiment was performed to investigate whether feeding xylose-treated soybean meal (xsbm) or corn gluten meal (cgm) is economically better under field conditions. ninety-four multiparous early lactating holstein cows (55±5 days in milk and 2.82±0.41 body condition score) were used in a completely randomized design. cows were randomly assigned to one of two treatments: xsbm or cgm as the m...

This study examined motor control in 61 early and continuously treated patients with phenylketonuria (PKU) and 69 control participants, aged 7 to 14 years. The pursuit task demanded concurrent planning and execution of unpredictable movements, whereas the tracking task required a highly automated circular movement that could be planned in advance. PKU patients showed significantly poorer motor ...

Contrast sensitivity was assessed in 47 children aged 5.4-9.8 years: 12 with phenylketonuria (PKU), six unaffected siblings and 29 children from the general population. Children with PKU, despite early and continuous treatment and despite phenylalanine (Phe) levels within accepted limits, were impaired across the range of spatial frequencies [1.5-18.0 cycles per degree of visual angle (c.p.d.)]...

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...

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...

INTRODUCTION Phenylketonuria is a genetic disorder of metabolism of amino acid phenylalanine, which results in the absence of phenylalanine hydroxylase, an enzyme that catalyzes the conversion of phenylalanine into tyrosine. It is an autosomal recessive disorder. Screening for phenylketonuria in Voivodina started in 2003. Screening data are shown in this paper. Treatment of phenylketonuria is b...

A 57 year old woman living independently in the community presented with four years of progressive spastic paraparesis and dementia. An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylalanine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phenylketo...

OBJECTIVE To assess cognitive and behavioral outcome in treated maternal phenylketonuria (PKU) offspring. METHODS In this prospective, longitudinal study, 228 children who were born to mothers with treated PKU or untreated mild hyperphenylalaninemia were compared with 70 control subjects at 7 years of age. RESULTS Offspring cognitive outcome negatively correlated with the number of gestatio...

The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infant's heel, and the cards are saved for later testing. Robert Guthrie invented the test in 1962 in Buffalo, New York. Phenylketonuria (PKU) is a congenital birth abnormality in...