نتایج جستجو برای: phenylketonurias

تعداد نتایج: 791  

2011
Mehmet Emin Ceylan Ayse Fulya Maner Ahmet Turkcan Agah Aydin

LETTER TO THE EDITOR: Autism is a wide spectrum disorder and a lot of factors play role in the etiology. Autism may accompany some genetic disorders such as fragile X, tuberosclerosis, neurofibromatosis and phenylketonuria [1]. However, the absence of sufficient evidence on the etiological roles of environmental, neuroanatomical and biochemical factors has shifted the direction of research to g...

Journal: :Clinical chemistry 1977
R Jagenburg S Rödjer

We measured the rate of elimination of phenylalanine by constant intravenous infusion of L-phenylalanine in 14 parents of children with phenylketonuria and in 21 subjects with a negative family history for this disease. When reciprocals of the observed elimination rates were plotted against the reciprocals of the increase in the plasma phenylalanine concentrations, approximately straight lines ...

Journal: :Pediatrics 2015
Rachael Sharman Karen A Sullivan Toni Jones Ross McD Young Jim McGill

Hyperphenylalaninemia is a variant of phenylketonuria, and debate remains as to what, if any, active management of this condition is required to preserve cognitive function and psychological well-being. This study is the first to examine longitudinally the executive function (EF) in adolescents with hyperphenylalaninemia. Two sibling pairs with mild hyperphenylalaninemia underwent neuropsycholo...

2001
Haiying Grunenwald

Dried blood spots collected on Specimen Collection Cards, commonly called “Guthrie cards” (Figure 1), have been used widely as valuable resources for genetic studies, such as, determination of hereditary diseases like phenylketonuria and congenital hypothyroidism. The ease of storage and transportation of these cards with blood spots also lends them to a variety of large field studies, especial...

Journal: :Pediatrics 1985
M R Seashore E Friedman R A Novelly V Bapat

Fourteen patients with classic phenylketonuria (PKU) were treated with a phenylalanine restricted diet from early infancy. All had satisfactory dietary control, with serum phenylalanine concentrations ranging between 2 to 5 mg/dL. Dietary restriction was discontinued in all these children between ages 5 and 6 years, and a free diet allowed. Developmental testing was performed using the Cattell ...

Journal: :Journal of epidemiology and community health 1999
J Lord M J Thomason P Littlejohns R A Chalmers M D Bain G M Addison A H Wilcox C A Seymour

STUDY OBJECTIVE To estimate the net financial benefit of neonatal screening for phenylketonuria (PKU): by a simple pooling of cost data from the literature; and by a more complex modelling approach. DESIGN A systematic literature review was conducted to identify papers containing data on the monetary costs and benefits of neonatal screening for PKU. The methodological quality of the studies w...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1973
P A Friedman D B Fisher E S Kang S Kaufman

An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.

2001
BERT N. LA Du PATRICIA J. MICHAEL

T HERE is a need for a simple rapid method to measure phenylalanine in serum or plasma, not only as an aid in the diagnosis of phenylketonuria, but also in the evaluation of the effectiveness of a diet low in phenylalanine in the treatment of patients with this condition. The method most commonly used to measure phenylalanine in plasma is that of Udenfriend and Cooper,* in which plasma is depro...

Journal: :Archives of disease in childhood 1970
A Bentovim B E Clayton D E Francis J Shepherd O H Wolff

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...

Journal: :Archives of disease in childhood 1977
D Burman J Holton J Allen

Two patients with phenylketonuria (PKU) requiring treatment were fed on low protein milks. Both had blood phenylalanine levels below 1200 micronmol/l (20mg/100 ml) until given a phenylalanine challenge. Phenylalanine content of mature breast milk may provide intakes similar to those used in treating PKU. Diagnosis of PKU is unlikely to be missed if screening is carried out on the sixth or seven...

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