OBJECTIVE To evaluate the results of systematizing preventive and health promotion actions among phenylketonuria (PKU) patients. METHODS Results of phenylketonuria patients attended in the Prenatal PKU Screening Program in the State of Paraná, Brazil, from 1996 to 2001, were evaluated. Socioeconomic data were investigated and the gross motor function measure was applied to determine the motor...

Pancytopenia in childhood can be caused by a variety of underlying diseases including hematological and non-hematological entities. Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism. No association between PKU and pancytopenia has ever been reported. We report the first case of PKU revealed by a pancytopenia at presentation. The patient was an infant girl born to healthy non-...

The hepatic phenylalanine hydroxylase system is complex, consisting of at least two enzymes and two non-protein cofactors. In classical phenylketonuria (PKU) the affect component has been shown to be the enzyme, phenylalanine hydroxylase. Recently, several variant forms of PKU have been identified which are due to deficiencies of two of the other components of the hydroxylase system, dihydropte...

Phenylketonuria (PKU) is an inborn metabolic error in which metabolism of phenylalanine into tyrosine is disrupted. If the diet of an infant with PKU is not restricted, blood phenylalanine levels are elevated, leading to irremediable brain damage and severe mental retardation. Children with PKU who are placed early and continuously on a low-phenylalanine diet develop normal levels of intelligen...

Rapid and in time diagnosis of phenylketonuria (PKU) in affected infants can help preventing the progress of mental and developmental disorders associated with the disease. Here we report the isolation of alkaliphilic Bacillus bacteria capable of producing high level of Phenylalanine dehydrogenase (PheDH) from soil. A new quantitative and rapid test for PKU diagnosis was then developed using th...

how to cite this article: karimzadeh p, ahmadabadi f, jafari n, shariatmadari f, nemati h, ahadi a, karimi dardashti s, mirzarahimi m, dastborhan z, zare noghabi j. study on mri changes in phenylketonuria in patients referred to mofid hospital. iran j child neurol. 2014 spring 8(2):53-56. objective phenylketonuria is one of the most common metabolic disorders and the first known cause of mental...

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...

Phenylketonuria (PKU) is an autosomal recessive inborn disorder of the metabolism that occurs due to mutations in the gene that codifies enzyme called the phenylalanine hydroxylase (PAH) which is responsible for converting dietary phenylalanine (Phe) into tyrosine (Tyr) in the liver. This results in persistent elevated Phe blood and tissue concentrations, with potential toxic effects, particula...

Phenylketonuria (PKU) is characterized by phenylalanine accumulation due to phenylalanine hydroxylase deficiency. Up to 50% of PKU patients experience seizures. We evaluated an adult PKU patient who suffered from absences and primarily generalized tonicclonic seizures, associated with generalized spikeand-wave discharges (GSWs) on EEG. An analysis of blood oxygenation level-dependent (BOLD) sig...

OBJECTIVE To assess cognitive and behavioral outcome in treated maternal phenylketonuria (PKU) offspring. METHODS In this prospective, longitudinal study, 228 children who were born to mothers with treated PKU or untreated mild hyperphenylalaninemia were compared with 70 control subjects at 7 years of age. RESULTS Offspring cognitive outcome negatively correlated with the number of gestatio...