OBJECTIVE To examine resolution of the diagnosis among parents of children with phenylketonuria (PKU) as a mechanism of adjustment for parents and children. METHODS Reaction to diagnosis interviews were conducted with 52 mothers and 47 fathers of 55 children with PKU aged 2-12 years. The parents also completed questionnaires assessing their personal adjustment (stress symptoms), their child's...

Background and Objective: Phenylketonuria (PKU) is a metabolic disorder that is caused by mutations in the phenylalanine hydroxylase (PAH) gene. The multiplicity of mutations in the PAH gene of PKU leads to the cases, in which the pathogenic mutation cannot be detected. In these cases, the variable number of tandem repeat (VNTR), which is the polymorphic marker associated with the PAH gene, is ...

introduction phenylketonuria (pku) is a congenital metabolic disorder of phenylalanine, if which, the diet is not to be followed exactly, it can lead to progressive mental retardation. the purpose of this study was to investigate the effect of face to face and non-face to face trainings by parental on controlling serum phenylalanine levels in the children with phenylketonuria. materials and met...

Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prevent clinical features of the disorder; dietary management was established almost 60 years ago. The institution of a low-phenylalanine (Phe) diet in the first few weeks of life was made possible by Guthrie neonatal screening, which further increased effectiveness of therapy. Indeed, neonatal diagn...

epidemiology and clinical study of phenylketonuria (pku) patients in khorasan province; norteast iran background: phenylketonuria is an autosomal recessive disease. early diagnosis is a important public health intervention to prevent neurological impairment .this study was designed to describe characteristics of phenylketonouria patients in khorasan ,northeast of iran. methods: we included all ...

Structural, volumetric, and microstructural abnormalities have been reported in the white matter of the brain in individuals with phenylketonuria (PKU). Very little research, however, has been conducted to investigate the development of white matter in children with PKU, and the developmental trajectory of their white matter microstructure is unknown. In the current study, diffusion tensor imag...

BACKGROUND Subjects consuming protein-restricted diets, such as patients with phenylketonuria (PKU) or milder hyperphenylalaninemias (HPAs) are at risk of selenium deficiency. Selenium is a cofactor of the antioxidant enzyme glutathione peroxidase and of the thyroid hormone converting enzyme thyroxine deiodinase. OBJECTIVE Our goal was to investigate the effects of low plasma selenium on anti...

Phenylketonuria (PKU) is a loss-of-function inborn error of metabolism. As many other inherited diseases the main pathologic mechanism in PKU is an enhanced tendency of the mutant phenylalanine hydroxylase (PAH) to misfold and undergo ubiquitin-dependent degradation. Recent alternative approaches with therapeutic potential for PKU aim at correcting the PAH misfolding, and in this respect pharma...

OBJECTIVE To measure change in patient activation and self-efficacy in individuals with phenylketonuria (PKU) before and after a 6-month phone-based motivational interviewing (MI) intervention and determine the feasibility of implementing dietary counseling for PKU using an MI approach. METHODS Participants (n = 31) included preadolescents (7-12 years), adolescents (13-17 years), and adults (...