نتایج جستجو برای: pku
تعداد نتایج: 1204 فیلتر نتایج به سال:
Phenylketonuria (PKU), an inborn error in phenylalanine metabolism, requires lifelong nutrition management with a low-phenylalanine diet, which includes a phenylalanine-free amino acid-based medical formula to provide the majority of an individual's protein needs. Compliance with this diet is often difficult for older children, adolescents, and adults with PKU. The whey protein glycomacropeptid...
INTRODUCTION In PKU there is little data comparing the prevalence of overweight and obesity in different countries. The aim of this cross sectional study was to evaluate prevalence data from different PKU treatment centres in Europe and Turkey. SUBJECTS AND METHODS In children, body mass index (BMI) and z scores and in adults BMI were calculated in 947 patients (783 children aged < 19 years; ...
The newborn screening for phenylketonuria (PKU) has become a common practice in many countries. The success of this type of mass screening is the result of the reliability of the Guthrie test in the identification of high blood phenylalanine levels. Recently, new syndromes other than PKU have been recognized that give high blood phenylalanine levels. These syndromes are referred to as “atypical...
In a previous study (Kindt et al. 1983, 1984) it was assumed that a protein hydrolysate, devoid of phenylalanine, together with intact protein as given to children with phenylketonuria (PKU), was equivalent to egg or milk protein. One group of children was given this 'PKU protein' in amounts corresponding to the Joint FAO/WHO ad hoc Expert Committee (1973) recommendations. The results indicated...
BACKGROUND Maternal phenylketonuria (PKU) can result in multiple congenital anomalies. In Northern Ireland, the prevalence of PKU is relatively high at 1 in 4000. OBJECTIVE To assess the outcome of 39 pregnancies in 20 mothers. RESULTS Dietary control was established before conception in 17 pregnancies (44%). Five mothers with hyperphenylalaninaemia had 11 pregnancies. There were no congeni...
We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected group of 25 PKU teenagers with treatment adherence problems. We demonstrated significant correlations of anxiety with variability of blood pheny...
New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop...
Phenylketonuria (PKU) is caused by the deficiency of the phenylalanine hydroxylase enzyme, which converts phenylalanine (Phe) to tyrosine. If left untreated from birth, this deficiency results in high levels of Phe in the blood, neurotoxic to the brain [1].The restriction of dietary Phe represents the mainstain of PKU management. PKU diet is mainly made up by variable amounts of vegetables and ...
OBJECTIVE To provide an overview of the diagnosis and management of phenylketonuria (PKU) in childhood with an emphasis on aspects relevant to family physicians providing ongoing care. SOURCES OF INFORMATION The author's experience as the clinic physician in a regional pediatric PKU clinic is supplemented with references providing evidence for key points. MAIN MESSAGE While metabolic clinic...
Biochemistry and genetics of PKU The normal route for Phe metabolism is its hydroxylation to tyrosine, catalyzed by PAH and requiring tetrahydrobiopterin as a cofactor. The human PAH gene is located on chromosome 12q23.2 and contains 13 exons. More than 500 disease-causing mutations have been identified in patients with PKU or hyperphenylalaninaemia (HPA), 67% of them being missense mutations. ...
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