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 small or large deletions (13%). CASE PRESENTATION We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX...

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, ge...

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...

The duality properties of Peti Nets (PN) are exploiled in order to apply an algorithmfor the calculation of colored S-invaiants of Predicate Transition nets (Pr/T nets) to the calculation of the colored T-invariants.

Bentovim, A., Clayton, B. E., Francis, D. E. M., Shepherd, J., and Wolff, 0. H. (1970). Archives of Disease in Childhood, 45, 640. Use of an amino acid mixture in the treatment of phenylketonuria. Twelve children with phenylketonuria diagnosed and treated from the first few weeks of life were grouped into pairs. Before the trial all of them were receiving a commercial preparation containing a p...

Phenylacetate, a deaminated metabolite of phenylalanine, has been implicated in damage to immature brain in phenylketonuria. Because primary brain tumors are highly reminiscent of the immature central nervous system, these neoplasms should be equally vulnerable. We show here that sodium phenylacetate can induce cytostasis and reversal of malignant properties of cultured human glioblastoma cells...