The timely detection of newborns with congenital phenylketonuria, in which the metabolism amino acid phenylalanine is disturbed due to lack enzyme hydroxylase, remains an urgent issue. Increase level and its toxic products cell leads severe brain damage, manifests itself form mental retardation. Prompt diagnosis phenylketonuria can prevent dementia serious disorders. aim work a comprehensive st...

Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000). The majority of those traced had high support needs, challenging behaviour and other symptoms of phenylketonuria. No significant differences were found between those...

The development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling's (1934) disease of phenylketonuria is not a single entity. In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by experience gained in the Phenylketonuria Clinic at the...

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.

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...

This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low-phenylalanine diets in combination with amino acid medical foods and glycomacropeptide medical foods for 3 weeks each in a crossover design. The sa...

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...

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).