Hyperphenylalaninemia (HPA) refers to all clinical conditions characterized by increased amounts of phenylalanine (PHE) in blood and other tissues. According to their blood PHE concentrations under a free diet, hyperphenylalaninemic patients are commonly classified into phenotypic subtypes: classical phenylketonuria (PKU) (PHE > 1200 µM/L), mild PKU (PHE 600-1200 µM/L) and persistent HPA (PHE 1...

The prefrontal cortex of the brain has been shown to play a crucial role in working memory, and age-related changes in prefrontal function may contribute to the improvements in working memory that are observed during childhood. We examined the developmental trajectory of working memory in school-age children with early-treated phenylketonuria (PKU), a metabolic disorder that results in prefront...

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...

Visual evoked potentials (VEP) were measured in 36 patients with early-treated phenylketonuria (PKU; aged 1 to 11 years) and good metabolic control before and after supplementation with omega-3 long-chain polyunsaturated fatty acids (LC-PUFA) from fish oil. Patients with PKU had significantly longer P100 latencies than 22 age-matched control subjects. After 3 months of LC-PUFA supplementation, ...

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...

BACKGROUND Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality of Life (QoL). This observational study evaluated QoL in a cohort of PKU patients, using updated and detailed instruments. METHODS 22 patients with mild PKU respondent to BH4 and 21 patients with classical PKU treated wit...

Dear Editor, Neonatal screening is a process in which infants are screened for various inborn disorders that may possibly lead to early diagnosis and the prevention of the imperative disability and distress caused later on as a result of congenital and/or inherited diseases.1,2 In numerous countries, the screening process lead to the detection of certain congenital diseases, such as Phenylketon...

In 2002, we had shown that the small molecule 6[R]-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) rescues the biochemical phenotype in a signifi cant share of patients suffering from phenylketonuria (PKU), the most frequent genetic disorder of amino acid metabolism. The project aimed to elucidate the molecular basis of PKU and the mode of action of the small molecule exerting its effect in the pre...

To unravel the role of gene mutations in the healthy and the diseased state, countless studies have tried to link genotype with phenotype. However, over the years, it became clear that the strain of mice can influence these results. Nevertheless, identical gene mutations in different strains are often still considered equals. An example of this, is the research done in phenylketonuria (PKU), an...

10.1586/EEM.10.39 Phenylketonuria Phenylketonuria (PKU; Online Mendelian Inheritance in Man No. 262600) is a genetic disorder characterized by a deficiency of the hepatic enzyme phenylalanine-4-hydroxylase (PAH; EC 1.14.16.1), causing elevated concentrations of phenylalanine (Phe) in the blood and brain. Hyperphenylalaninemia (HPA) can also be caused by a deficiency of tetrahydrobiopterin (BH4)...