Developmental Defects of Enamel in Phenylketonuria Patients

Source: Journal of Dentistry for Children - Category: Dentistry Authors: Tags: Clinical Article Source Type: research

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AbstractBioMarin Pharmaceutical is developing pegvaliase (PALYNZIQ ™) as a treatment for phenylketonuria, a genetic disorder caused by deficiency of phenylalanine hydroxylase which leads to neurotoxic accumulation of phenylalanine. Data from the phase III PRISM clinical trial program indicate treatment with pegvaliase is associated with sustained reductions in bl ood phenylalanine levels and sustained improvements in neurological sequelae in patients with phenylketonuria. Based on these positive results pegvaliase was recently approved in the US for adults with phenylketonuria who have uncontrolled blood phenylalanin...
Source: BioDrugs - Category: Drugs & Pharmacology Source Type: research
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria, Published online: 12 July 2018; doi:10.1038/s41436-018-0081-xAllelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: September 2018Source: Molecular Genetics and Metabolism Reports, Volume 16Author(s): Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto BurlinaAbstractDietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and ...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
We report a novel paper-based enzymatic platform coupled to screen printed graphene-modified electrode for the neonatal screening of phenylketonuria (PKU0.MethodsThe paper-based analytical device coupled to electrochemical detection (EPAD) is based on the use of paper microzones modified with phenylalanine dehydrogenase enzyme (PheDH). The modified PADs were placed on the surface of an electrode modified with electrochemically reduced graphene (ERGO). PheDH in the presence of NAD+ catalyzes the reversible deamination of Phe to form phenylpyruvate, ammonia, and NADH. The electrochemical oxidation of NADH was monitored by di...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
In conclusion present study testifies the clinical efficacy of rAvPAL treatment in a preclinical model of PKU and the advantages of erythrocytes as carrier of the enzyme in term of frequency of the administrations and prevention of immunological reactions.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: May 2018Source: Molecular Genetics and Metabolism, Volume 124, Issue 1Author(s): Cary O. Harding, R. Stephen Amato, Mary Stuy, Nicola Longo, Barbara K. Burton, John Posner, Haoling H. Weng, Markus Merilainen, Zhonghua Gu, Joy Jiang, Jerry Vockley, PRISM-2 InvestigatorsAbstractIntroductionPegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This manuscript describes results of a randomized discontinuation trial (RDT) designed to evaluate the effects of pegvaliase treatment on blood phenylalanine (Phe) and ...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
ConclusionResults from the PRISM Phase 3 program support the efficacy of pegvaliase for the treatment of adults with PKU, with a manageable safety profile in most participants. The PRISM-2 extension study will continue to assess the long-term effects of pegvaliase treatment.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
ConclusionThe incidence rates of IMDs vary by country. Moreover, the disease spectra of IMDs detected via selective screening differ from those detected via ENBS.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Publication date: June 2018Source: Molecular Genetics and Metabolism Reports, Volume 15Author(s): Joseph Leung, Caroline Selvage, Taryn Bosdet, Jennifer Branov, Annie Rosen-Heath, Carole Bishop, Sandra Sirrs, Gabriella HorvathAbstractIntroductionPhenylketonuria (PKU) is an inborn error of metabolism associated with an increased risk of behavioural and mood disorders. There are currently no reliable markers for monitoring mood in PKU. The purpose of this study was to evaluate salivary serotonin as a possible non-invasive marker of long-term mood symptoms and central serotonin activity in patients with PKU.Methods20 patients...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
ConclusionsMales with PKU have lower BMD compared with females with PKU that may be related to higher intake of AA-MF and greater calcium excretion. The trial was registered at www.clinicaltrials.gov as NCT01428258.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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