Objective: Phenylketonuria is the most common inherited aminoacidopathy, characterized by elevated level of phenylalanine in the plasma and cerebrospinal fluid of patients, which eventually leads to cognitive dysfunction. However, the underlying mechanisms are not clear yet. In the present study, we aimed to examine the spatial cognitive function in the phenylketonuria mouse model and explore t...

BACKGROUND Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly, and congenital heart disease (CHD). Dietary treatment to control phenylalanine concentrations can prevent these sequelae. OBJECTIVE We aimed to present an overview of reported pregnancy complications and neo...

To estimate the burden of disease due to congenital toxoplasmosis in Sweden the incidence of primary infections during pregnancy and birth prevalence of congenital toxoplasmosis in 40,978 children born in two regions in Sweden was determined. Women possibly infected during pregnancy were identified based on: 1, detection of specific IgG based on neonatal screening of the phenylketonuria (PKU) c...

OBJECTIVE To provide information on the history of maternal phenylketonuria. METHODS A review of the literature and personal observations were conducted. RESULTS Compilation of sequential information about the development of our understanding of maternal PKU was produced. CONCLUSIONS The history of maternal PKU reflects continuous additions to our understanding of this teratogenic syndrome.

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...

AIM Mildly depressed IQ is common in treated phenylketonuria. This study explored whether a particular intellectual ability profile typifies early and continuously treated phenylketonuria and whether component skills comprising the IQ relate to socioeconomic and treatment factors. METHODS IQ scores were collected retrospectively from variants of the "Wechsler intelligence scale for children" ...

background: the haplotype phasing is more useful than genotyping markers independently at carrier detection and prena­tal diagnosis of diseases. the pah gene region contains several markers used in detection of pku disease. in the present study, the efficiency of bgl ii- ecor i-vntr haplotype phasing in iranian family trios was investigated. then, this informa­tion was compared with those obtai...

OBJECTIVE To test the efficacy of tyrosine supplementation, as an adjunct to dietary treatment, on neuropsychological test performance in individuals with phenylketonuria. DESIGN A randomised controlled trial of tyrosine supplementation using a double blind crossover procedure with three four week phases. SETTING The Hospital for Sick Children, Toronto. PARTICIPANTS 21 individuals with ph...

Background: Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly, and congenital heart disease (CHD). Dietary treatment to control phenylalanine concentrations can prevent these sequelae. Objective: We aimed to present an overview of reported pregnancy complications and neo...