OBJECTIVE To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria (PKU). METHODOLOGY PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study (MPKUCS). A total of 84 different mutations were detected, and complete genotype was obtained i...

Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing the devastating brain damage associated with untreated PKU. The management of PKU is inconsistent: there are few national guidelines, and these tend to be incomplete and implemented sporad...

Two novel layered silicates, PKU-13 and PKU-13a, were hydrothermally synthesized by using trimethylpropylammonium hydroxide as the structure directing agent (SDA). Their structures were solved by using powder X-ray diffraction data in combination with electron diffraction technique and NMR spectroscopy. These two silicates are built from the same r52 layer in different stacking modes: the adjac...

OBJECTIVES To investigate the BH4 response in a group of patients with phenylketonuria (PKU) in order to offer this alternative treatment to the responsive patients. DESIGN AND METHODS The 24-h-long Phe/BH4 loading test was performed on 64 PKU patients requiring dietary treatment. RESULTS All patients with mild-PKU and 75% of patients with moderate-PKU were BH4 responsive, while only 11% of...

The objective of this study was to determine if children with phenylketonuria (PKU) have lower fatty acid concentrations in total erythrocyte lipid due to the phenylalanine restricted diet therapy compared to healthy control subjects. Dietary intake and fatty acid concentrations in total erythrocyte lipid were measured in twenty-one subjects (</=6 years of age) with PKU and twenty-three control...

INTRODUCTION Management of phenylketonuria (PKU) is mainly achieved through strict dietary control that aims to limit the intake of phenylalanine (Phe). Adherence to this diet is burdensome due to the need for specially prepared low-Phe meals and regular monitoring of Phe concentrations. A UK cross-sectional study was conducted to identify the personal time and monetary burden associated with a...

Phenylketonuria (PKU) is a rare genetic condition characterized by an absence or mutation of the PAH enzyme, which is necessary for the metabolism of the amino acid phenylalanine into tyrosine. Recently, sapropterin dihydrochloride, a synthetic form of tetrahydrobiopterin (BH4), has been introduced as a supplemental treatment to dietary phe control for PKU. Very little is known regarding BH4 tr...

BACKGROUND Phenylketonuria (PKU) is an inborn error of amino acid metabolism in which high phenylalanine (Phe) concentrations in the central nervous system adversely affect its development and functioning. In PKU high oxidative stress and inefficiency of free radical scavenging may lead to systemic chronic inflammation. We hypothesised that in PKU gut mucosa is chronically inflamed and that thi...

BACKGROUND AND OBJECTIVE Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal screening program is not established yet, the management of PKU handicap is not properly carried out. The aim of this study was to estimate the frequ...

"Inborn errors of metabolism," first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and biological individuality. Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype, was identified in 1934 by Asbjörn Fölling. It is a disease with impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (HPA). Its meta...