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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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Condition:   Phenylketonuria (PKU) Intervention:   Sponsor:   BioMarin Pharmaceutical Enrolling by invitation
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
In this study, we report a novel intron 11 regulatory element, which is involved in exon 11 splicing, as revealed by the investigated pathogenic effect of variants c .1199+17G>A and c.1199+20G>C, identified in PKU patients. Both mutations cause exon 11 skipping in a minigene system. RNA binding assays indicate that binding of U1snRNP70 to this intronic region is disrupted, concomitant with a slightly increased binding of inhibitors hnRNPA1/2. We have investigated the effect of deletions and point mutations, as well as overexpression of adapted U1snRNA to show that this splicing regulatory motif is important for regul...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
Conclusion Results 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
Conclusion Mean blood Phe reduction was sustained in the pegvaliase group, while placebo groups had mean blood Phe concentration increase toward pre-treatment baseline levels. Results from this study confirmed the efficacy of pegvaliase in maintaining reduced blood Phe concentrations with a manageable safety profile for most participants.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Abstract Treatment with tetrahydrobiopterin (BH4) is the latest therapeutic option approved for patients with phenylketonuria (PKU)-one of the most frequent inborn metabolic diseases. PKU or phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene. Given that some PAH mutations are responsive to BH4 treatment while others are non-responsive, for every novel mutation that is discovered it is essential to confirm its pathogenic effect and to assess its responsiveness to a BH4 treatment in vitro, before the drug is administered to patients. We found a c.676C>A (p.Gln226Lys) mutation in the...
Source: Biochemical Genetics - Category: Genetics & Stem Cells Authors: Tags: Biochem Genet 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
Abstract 1. Mice that were heterozygous dominant for the enu1 and enu2 mutation in PAH resulted in hepatic PAH assays for SCMC that had significantly increased calculated Km (wt/enu1, 1.84-2.12 fold increase and wt/enu2 a 2.75 fold increase in PAH assays). The heterozygous dominant phenotypes showed a significantly reduced catalytic turnover of SCMC (wt/enu1, 6.11 fold decrease and wt/enu2 an 11.25 fold decrease in calculated Vmax). Finally, these phenotypes also had a significantly reduced clearance, CLE (wt/enu1, 13.02 fold and wt/enu2, a 30.80-30.94 fold decrease) The homozygous recessive phenotype (enu1/enu1) ...
Source: Xenobiotica - Category: Research Authors: Tags: Xenobiotica Source Type: research
Abstract Phenylketonuria (PKU) is the most common inherited metabolic disease, an autosomal recessive disorder affecting>10,000 newborns each year globally. It can be caused by over 1000 different naturally occurring mutations in the phenylalanine hydroxylase (PAH) gene. We analyzed three novel naturally occurring PAH gene variants: p.Glu178Lys (c.532G>A), p.Val245Met (c.733G>A) and p.Ser250Phe (c.749C>T). The mutant effect on the PAH enzyme structure and function was predicted by bioinformatics software. Vectors expressing the corresponding PAH variants were generated for expression in E. coli and in ...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Conclusion Salivary serotonin does not correlate with peripheral phenylalanine levels, DASS depression scale scores, or DASS anxiety scale scores, implying that salivary serotonin does not reflect central serotonin turnover. Additionally, this study suggests that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU. Synopsis Salivary serotonin does not correlate with peripheral phenylalanine levels, DASS depression scale scores, or DASS anxiety scale scores, suggesting that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Emma Harbage, from Lichfield, Staffordshire, suffers from phenylketonuria - which means her liver is unable to break down phenylalanine, which is found in aspartame.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
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