In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the characterization of the PAH genotypes of 115 patients with PKU from the southeast region of Brazi...

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, ge...

Phenylketonuria (PKU) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (PAH) gene. This gene is linked to a variable number of tandem repeats (VNTR) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. In this study, VNTR with 13 repeats that has not been reported previously ...

Etiology Phenylketonuria (PKU) is a metabolic disorder in which an inability to properly metabolize the amino acid phenylalanine (Phe) leads to a buildup of Phe in the blood, causing neurotoxicity and resulting in intellectual disability, delayed speech, seizures, and behavior abnormalities. Individuals with PKU are also susceptible to other adverse outcomes, including impaired executive functi...

Abstract Background Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU associated with wide range of cognitive and psychiatric sequelae. Contemporary management guidelines recommend lifetime dietary control (Phe) levels, however many individuals who discontinue subsequently suffer symptoms anxiety, depres...

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, ...

Phenylketonuria (PKU), if not detected and treated in newborns, causes severe neurological dysfunction and cognitive and behavioral deficiencies. Despite the biochemical characterization of PKU, the molecular mechanisms underlying PKU-associated brain dysfunction remain poorly understood. The aim of this study was to gain insights into the pathogenesis of this neurological damage by analyzing p...

Based on the example of psycho-education project for PKU (Phenylketonuria), patients and carers in Pomerania region (Poland), could draw general conclusion: for the improvement of patients well-being, not only medical care, but also psychological knowledge and skills are very important. Some psychological skills are crucial to cope efficiently with the disease and patients and carers should be ...

This study was aimed to screen the patients for phenylketonuria among chronic psychiatric inpatients. A total of 577 cases were studied which included mentally retarded patients, schizophrenics and those suffering from depressive disorders. During the extensive screening not a single positive case could be identified. The findings of this screening support the previous studies. Looking at low i...

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...