Diffusion tensor imaging (DTI) has shown poorer microstructural white matter integrity in children with phenylketonuria (PKU), specifically decreases in mean diffusivity (MD), in comparison with healthy children. However, little research has been conducted to investigate the relationship between age and white matter integrity in this population. The present study examined group differences in t...

A total of 599 children with phenylketonuria, who had been treated early, were followed up prospectively in order to examine the association between intellectual progress from 4 to 14 years of age and control of phenylalanine concentrations. The phenylalanine rose from around 400 mumol/l during the first four years to above 900 mumol/l by 12 years. The children were divided into two cohorts: co...

A six year old Malay boy with phenylketonuria is presented. The history, clinical examination, biochemical findings and treatment are described followed by a discussion on phenylketonuria.

Phenylketonuria (PKU) is an inborn error of metabolism, and its detrimental effects on neurocognitive functioning have been well studied. Early detection and treatment of PKU prevent the severe consequences of this disorder. However, even early- and well-treated patients experience hidden disabilities, including subtle deficits in executive functioning, mild reductions in mental processing spee...

In this manual fluorometric method, blood samples are used that have been impregnated on the filter paper, a convenient collection technique that is widely used to screen newborns for phenylketonuria. The modified procedure, based on the method of McCaman and Robins [J. Lab Clin. Med. 59, 885 (1962)], includes elution of phenylalanine from specimens on filter paper, removal of proteins by preci...

BACKGROUND Phenylketonuria is characterized by mutations in the Phe hydroxylase gene that leads to the accumulation of Phe in plasma and the brain. The standard of care for phenylketonuria is nutritional management with dietary restriction of Phe and the provision of sufficient protein and energy for growth and health maintenance. The protein requirement in children with phenylketonuria is empi...

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...

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...