Possible Biochemical Model for Phenylketonuria
نویسندگان
چکیده
منابع مشابه
Peptic ulceration and phenylketonuria: a possible link?
We report five cases of peptic ulceration in patients with classical phenylketonuria and suggest that there may be a causal relationship between the two conditions.
متن کاملCarcinogenic Effects in a Phenylketonuria Mouse Model
Phenylketonuria (PKU) is a metabolic disorder caused by impaired phenylalanine hydroxylase (PAH). This condition results in hyperphenylalaninemia and elevated levels of abnormal phenylalanine metabolites, among which is phenylacetic acid/phenylacetate (PA). In recent years, PA and its analogs were found to have anticancer activity against a variety of malignancies suggesting the possibility tha...
متن کاملPhenylketonuria.
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neo...
متن کاملScreening for Phenylketonuria
Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his appr...
متن کاملNeonatal screening for phenylketonuria.
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.
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ژورنال
عنوان ژورنال: Nature
سال: 1972
ISSN: 0028-0836,1476-4687
DOI: 10.1038/235230a0