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...

(1) This paper presents the results of a field study designed to investigate the hypothesis that persons presumed heterozygous for phenylketonuria are more vulnerable to mental disorder than other persons. Three-hundred-and-thirty-one persons were interviewed, including 108 parents of phenylketonuric offspring, 102 parents with non-phenylketonuric mentally retarded offspring, and 121 parents of...

UNLABELLED The effect of energy, protein, fat, and phenylalanine on serum phenylalanine concentrations during pregnancy for a set of identical twins with phenylketonuria (PKU) was examined. Blood samples were collected one to two times per week. The subjects completed a 3-d food record prior to each blood collection. The effect of the factors on serum phenylalanine levels was evaluated statisti...

The present study focuses on the effect of parental consanguinity on genetic disorders in the Iranian population, which is predominantly Muslim and where consanguineous marriages are quite common. Data were collected from three genetic centers from different areas of Tehran. Out of 800 affected subjects nearly 44% were born to consanguineous parents. While 37.8% of them were born out of paralle...

This study was aimed to screen the patients for phenylketonuria among chronic psychiatric inpatients. A total of 577 cases were studied which included mentally retarded patients, schizophrenics and those suffering from depressive disorders. During the extensive screening not a single positive case could be identified. The findings of this screening support the previous studies. Looking at low i...

BACKGROUND Normal intellectual and personal development can be expected in early-diagnosed and treated PKU patients. Aim of the study was to analyse quality of life and social status, which are important parameters for an overall estimation of success of treatment apart from intellectual outcome in adult PKU patients. METHODS 67 patients completed a questionnaire on quality of life and social...

AIM Mildly depressed IQ is common in treated phenylketonuria. This study explored whether a particular intellectual ability profile typifies early and continuously treated phenylketonuria and whether component skills comprising the IQ relate to socioeconomic and treatment factors. METHODS IQ scores were collected retrospectively from variants of the "Wechsler intelligence scale for children" ...

BACKGROUND The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families. Our aim was to describe the HRQoL of patients with PKU from a large international study, using generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PK...

OBJECTIVE To determine verbal intelligence and spoken language of children with phenylketonuria and to study the effect of age at diagnosis and phenylalanine plasma level on these abilities. DESIGN Cross-sectional. SETTING Children with phenylketonuria were recruited from pediatric hospitals in 2012. Normal control subjects were recruited from kindergartens in Tehran. PARTICIPANTS 30 phen...

Breastfeeding duration for infants with phenylketonuria (PKU) is less than other full-term infants. However, no study has examined the challenges encountered by mothers' breastfeeding infants with PKU. In 75 mothers of a child with PKU, three categories of breastfeeding challenges were identified: common breastfeeding issues, breastfeeding and PKU, and no challenges. The common breastfeeding is...