This article highlights the significance of inborn errors metabolism and focuses specifically on phenylketonuria (PKU), a well-known inheritance disorder caused by deficiency or absence phenylalanine hydroxylase (PAH). review discusses associated mutations in PAH gene their impact metabolism. A total 40 articles were analyzed between 2019 2023, covering diagnostic innovations, advancements trea...

The routine screening of newborns for phenylketonuria (PKU) was started in Northern Ireland during the early part of 1960. The method used initially was the Phenistix/napkin test, i.e. a Phenistix strip (Ames Labs.), was pressed between the folds of a wet napkin. Tests were carried out by Health Visitors on infants aged between 3 and 6 weeks. Because this screening procedure was not adopted by ...

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.

BACKGROUND Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardat...

Phenylketonuria is an inborn error of the metabolism of phenylalanine associated almost invariably with grave mental deficiency, and often with epilepsy resembling petit mal. It was suggested that the mental deficiency was due to an intoxication by phenylalanine or one of its metabolites and might be relieved by feeding a diet low in phenylalanine (Woolf and Vulliamy, 1951). An economically pra...

Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S muta...

The routine screening of newborns for phenylketonuria (PKU) was started in Northern Ireland during the early part of 1960. The method used initially was the Phenistix/napkin test, i.e. a Phenistix strip (Ames Labs.), was pressed between the folds of a wet napkin. Tests were carried out by Health Visitors on infants aged between 3 and 6 weeks. Because this screening procedure was not adopted by ...