Two missense mutations in the phenylalanine hydroxylase (PAH) genes of Orientals with phenylketonuria (PKU) have been identified. A G-to-A transition in exon 7 of the gene results in the substitution of Gln243 for Arg243 (R243Q) and accounts for 18% of all PKU chromosomes among Chinese. An A-to-G transition in exon 6 of the gene results in the substitution of Cys204 for Tyr204 (Y204C) and ident...

OBJECTIVE Phenylketonuria (PKU) is a hereditary metabolic disorder that often results in neuropsychological impairment, even in individuals treated early and continuously. This study was conducted to examine processing speed, variability in processing speed, and the relationship between processing speed variables and executive abilities in children with early and continuously treated PKU. MET...

Visual event-related potentials (ERPs) were examined in 16 children (aged 5-14 y) with phenylketonuria (PKU) and 16 age- and sex-matched controls. Lifetime median measures of phenylalanine (Phe) were 230-460 micromol/l. The most recent Phe levels were 56-624 micromol/l. ERPs were recorded whilst the children performed a discrimination task. All stimuli were square wave gratings degree, which ap...

10.1586/EEM.10.39 Phenylketonuria Phenylketonuria (PKU; Online Mendelian Inheritance in Man No. 262600) is a genetic disorder characterized by a deficiency of the hepatic enzyme phenylalanine-4-hydroxylase (PAH; EC 1.14.16.1), causing elevated concentrations of phenylalanine (Phe) in the blood and brain. Hyperphenylalaninemia (HPA) can also be caused by a deficiency of tetrahydrobiopterin (BH4)...

phenylketonuria (pku) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (pah) gene. this gene is linked to a variable number of tandem repeats (vntr) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. in this study, vntr with 13 repeats that has not been reported previously ...

OBJECTIVE The development of guidelines for phenylketonuria (PKU) management in the United Kingdom has resulted in much discussion in the community of parents and PKU clinics and parents have asked why the United States does not have such guidelines. The objective of this report is to discuss PKU management in the United States, the British guidelines on PKU management, and the feasibility, sui...

Phenylketonuria (PKU) is an inborn error of phenylalanine (phe) and tyrosine (tyr) metabolism. It anautosomal recessive disease occurred due to deficiency liver enzyme hydroxylase (PAH).Hence, phe not converted tyr accumulated in the body. Phe thus channeled alternativeroutes metabolism forms Phenylketones excreted urine. Early treatment essential preventmental retardation other intellectual di...

Breast milk is the nutrition of choice for human infants (American Academy of Pediatrics, 2005; American Association of Family Physicians, 2008; Association of Women's Health Obstetric and Neonatal Nurses, 2005; Canadian Paediatric Society, 2005; U.S. Preventive Services Task Force, 2008; World Health Organization, 2009). In comparison to standard commercial formula, human breast milk has a low...

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 ...

Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by phenylalanine hydroxylase (PAH) deficiency. Dietary treatment has been the cornerstone for controlling systemic phenylalanine (Phe) levels in PKU for the past 4 decades. Over the years, it has become clear that blood Phe concentration needs to be controlled for the life of the patient, a difficult task taking into consi...