OBJECTIVE The aim of the present study was to examine to what extent maternal and offspring phenylalanine hydroxylase (PAH) genotypes in conjunction with maternal IQ and dietary control during pregnancy are related to cognitive development in offspring of women with phenylketonuria (PKU). METHODS PAH gene mutations were determined in 196 maternal PKU subjects and their offspring. The women we...

Phenylketonuria (PKU) (OMIM 261600) is the first Mendelian disease to have an identified chemical cause of impaired cognitive development. The disease is accompanied by hyperphenylalaninemia (HPA) and elevated levels of phenylalanine metabolites (phenylacetate (PAA), phenyllactate (PLA), and phenylpyruvate (PPA)) in body fluids. Here we describe a method to determine the concentrations of PAA, ...

Phenylketonuria (PKU) is an inborn error of metabolism involving a deficiency of the enzyme phenylalanine hydroxylase. This condition results in elevated levels of phenylalanine and low levels of tyrosine. If left untreated, severe neuropathology and neurobehavioral sequelae manifest. The implementation of newborn screening and early dietary treatment has significantly reduced such morbidity. D...

We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium until 32 hours after birth, resulting in the clinical suspicion of an intoxication-type metabolic di...

Phenylketonuria (PKU) is caused by inherited phenylalanine-hydroxylase (PAH) deficiency and, in many genotypes, it is associated with protein misfolding. The natural cofactor of PAH, tetrahydrobiopterin (BH(4)), can act as a pharmacological chaperone (PC) that rescues enzyme function. However, BH(4) shows limited efficacy in some PKU genotypes and its chemical synthesis is very costly. Taking a...

Phenylketonuria (PKU) is the inability to convert phenylalanine into tyrosine, causing toxic effects to the central nervous system. Traditionally, in the treatment of PKU, breastfeeding is replaced by formula milk. This study verified the effects of breastfeeding as a source of phenylalanine on the development of children with PKU. Participants were ten infants with PKU who started treatment wi...

Treatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial channels to obtain PKU treatment in Rio Grande do Sul (RS), Brazil. Lawsuits filed between 2001- 2010 and having as beneficiaries PKU patients requesting treatment for the di...

OBJECTIVES Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE). MATERIALS AND METHODS We reviewed the phenylalanine concentrations in fil...

Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a newborn screening program and the number of newborns screened for PKU in China has risen each year. This review describes the current status of laws and regulat...

This study focused on important characteristics of attentional (selective) processing in children with early-treated phenylketonuria (PKU). Seven to 14-year-old children with PKU were allocated to high phenylalanine (Phe) and low Phe groups and compared with control children on amplitudes and latencies of early and late event-related potential (ERP) components elicited during a selective proces...