how to cite this article: fayyazi a, salari e, khajeh a, ghajarpour a. a comparison of risperidone and buspirone for treatment of behavior disorders in children with phenylketonuria. iran j child neurol. 2014 autumn; 8(4):33-38. abstract objective many patients with late-diagnosed phenylketonuria (pku) suffer from severe behavior problems. this study compares the effects of buspirone and risper...

After a brief overview of the anatomy of dorsolateral prefrontal cortex (DL-PFC) and of its anatomical connections with other brain regions, findings are summarized that DL-PFC subserves working memory and inhibitory control abilities even during infancy. Evidence suggests that one change in the prefrontal neural circuit helping to make possible some of the cognitive advances seen in infants be...

The case histories are reported of three patients with phenylketonuria (PKU) in whom the initial Guthrie screening for PKU was falsely negative. Possible explanations for this problem are reviewed, as well as the limited cost-effectiveness of general re-testing. Guidelines are suggested to im­ prove the sensitivity of PKU screening procedures for newborns.

PCR amplification, either conventional, or as site directed mutagenesis using primers with mismatched 3'-ends, followed by restriction endonuclease digestion, provides rapid, non-isotope assays of known mutations in the human phenylalanine hydroxylase gene. Such assays were shown to have the potential to detect all of the 18 presently reported phenylketonuria mutations. The practical applicabil...

The results of the International Collaborative Study of Maternal phenylketonuria have shown that dietary phenylalanine restriction of women with hyperphenylalaninemia during pregnancy decreases the incidence of mental retardation, microcephaly, congenital heart disease, and intrauterine growth retardation in their offspring. The best results are achieved when treatment is initiated before conce...

Galactosaemia, phenylketonuria and homocystinuria are inborn errors of metabolism as the term was defined by Garrod (1908). I n all three lack of an enzyme causes a metabolic block and accumulation of the substrate of the missing enzyme, and all three are inherited as Mendelian recessive characters. Unlike Garrod's original examples, galactosaemia, phenylketonuria and homocystinuria are often a...

Bessman’s historical perspective in this issue (1) provides us with an interesting summary of one side of a controversy that occurred > 20 y ago concerning a possible role for tyrosine in the mental defect of phenylketonuria (PKU) and maternal PKU. Unfortunately, his editorial confuses the difference between early-treated and late-treated PKU. The study by Hsia et al (2) was conducted in instit...

Phenylketonuria is an inborn error of metabolism that historically has been treated with a strict phenylalanine-restricted diet where all foods are weighed and measured. This is cumbersome and difficult for patients and caregivers, especially patients with high phenylalanine blood concentrations who often have neurocognitive deficits. The Simplified Diet is an alternative approach that allows f...

OBJECTIVE The objective of this work was to determine whether cells overexpressing phenylalanine (Phe) hydroxylase (PAH) can significantly reduce Phe in vitro for potential use as a therapy for preventing maternal phenylketonuria. STUDY DESIGN Human 293T and WRL68 cell lines were transiently and stably transfected to overexpress PAH. Cells were encapsulated within microspheres of sodium algin...