نتایج جستجو برای: phenylketonuria
تعداد نتایج: 2147 فیلتر نتایج به سال:
objective too much restriction of dietary proteins can cause severe protein malnutrition,which can occur in adjusting the diet for some kinds of aminoacidopathies, urea cycle disorder and organic academia. this report presents the case of a 1.5-year-old boy with history of phenylketonuria with a three weeks history of erythematous scaly plaques and edema of his extremities; he had a history of ...
BACKGROUND In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonuria and evaluated two hypotheses-the dopamine and the long-chain polyunsatura...
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...
Investigating the Factors Related to Psychological Well-Being of Parents with Phenylketonuria Children: A Systematic Review
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 ...
Plasma biopterin derivatives studied in 10 normal and 21 phenylketonuric children showed a significantly high concentration in the latter group. Biopterin derivatives correlated with plasma phenylalanine concentration, but in normal adults given an oral phenylalanine load the rate of increase with phenylalanine differed from that in phenylketonuric patients. A patient with hyperphenylalaninaemi...
Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls) found no significant differences in executive function (although adolescents with phenylketonuria performed slightly worse than their siblings). Biochemical relationships with executi...
COMMITTEE ON THE HANDICAPPED CHILD I N RESPONSE to many requests from mdividuals and agencies, the following statement on the present status of treatment of phenylketonuria (PKU) has been prepared. The Committee on Fetus and Newborn has reviewed the present status of neonatal screening for inborn errors of metabolism (e.g., PKIJ and related problems) and is reporting separately. There is consid...
BACKGROUND AND PURPOSE Our purpose was to specify the most severely affected brain structures in early treated phenylketonuria regarding volume loss and establish possible correlations between volume loss and plasma levels of phenylalanine (Phe). METHODS In 31 patients with early treated phenylketonuria and in 27 healthy volunteers, we acquired volumetric MR imaging data. Serum Phe concentrat...
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