Mutational landscape of phenylketonuria in Iran
In this study, we have analysed and present an update of the mutational landscape of the PAH gene as well as the population genetics and frequencies of detected variants for each cohort. Published articles on PKU mutations in Iran were identified through a comprehensive PubMed, Google Scholar, Web of Science (ISI), SCOPUS, Elsevier, Wiley Online Library and SID literature search using the terms: "phenylketonuria", "hyperphenylalaninemia", and "PKU" in combination with "Iran", "Iranian population", "mutation analysis", and "Molecular genetics". Among the literature-related to genetics of PKU, 18 studies were on the PKU muta...
Source: Molecular Medicine - August 1, 2023 Category: Molecular Biology Authors: Naser Ajami Anvar Soleimani Reza Jafarzadeh-Esfehani Mojtaba Hasanpour Romina Rashid Shomali Mohammad Reza Abbaszadegan Source Type: research
Total choline intake and working memory performance in adults with phenylketonuria
Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and ot... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 29, 2023 Category: Internal Medicine Authors: Meriah S. Schoen, Kelly M. Boland, Shawn E. Christ, Xiangqin Cui, Usha Ramakrishnan, Thomas R. Ziegler, Jessica A. Alvarez and Rani H. Singh Tags: Research Source Type: research
Phenylketonuria in three siblings
Pract Neurol. 2023 Jul 24:pn-2023-003815. doi: 10.1136/pn-2023-003815. Online ahead of print.NO ABSTRACTPMID:37487703 | DOI:10.1136/pn-2023-003815 (Source: Practical Neurology)
Source: Practical Neurology - July 24, 2023 Category: Neurology Authors: Igor de Assis Franco Ane Maria Dos Anjos Florinda Fabr ício Guimarães Gonçalves Marcelo Masruha Rodrigues Thiago Cardoso Vale Source Type: research
Phenylketonuria in three siblings
Pract Neurol. 2023 Jul 24:pn-2023-003815. doi: 10.1136/pn-2023-003815. Online ahead of print.NO ABSTRACTPMID:37487703 | DOI:10.1136/pn-2023-003815 (Source: Practical Neurology)
Source: Practical Neurology - July 24, 2023 Category: Neurology Authors: Igor de Assis Franco Ane Maria Dos Anjos Florinda Fabr ício Guimarães Gonçalves Marcelo Masruha Rodrigues Thiago Cardoso Vale Source Type: research
Phenylketonuria in three siblings
Pract Neurol. 2023 Jul 24:pn-2023-003815. doi: 10.1136/pn-2023-003815. Online ahead of print.NO ABSTRACTPMID:37487703 | DOI:10.1136/pn-2023-003815 (Source: Practical Neurology)
Source: Practical Neurology - July 24, 2023 Category: Neurology Authors: Igor de Assis Franco Ane Maria Dos Anjos Florinda Fabr ício Guimarães Gonçalves Marcelo Masruha Rodrigues Thiago Cardoso Vale Source Type: research
Preliminary Data on Free Use of Fruits and Vegetables Containing Phenylalanine 76-100 mg/100 g of Food in 16 Children with Phenylketonuria: 6 Months Follow-Up
Nutrients. 2023 Jul 6;15(13):3046. doi: 10.3390/nu15133046.ABSTRACTIn phenylketonuria (PKU), a previous intervention study assessing the patients ability to tolerate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit or measurement, found that an extra 50 mg/day phenylalanine, but not 100 mg/day, was tolerated from these fruits and vegetables. In a further 6-month extension study, we examined the effect of the 'free' use of this group of fruits and vegetables on blood phenylalanine control. For 6 months, the patients ate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit ...
Source: Cancer Control - July 14, 2023 Category: Cancer & Oncology Authors: Alex Pinto Anne Daly J úlio César Rocha Catherine Ashmore Sharon Evans Richard Jackson Mary Hickson Anita MacDonald Source Type: research
Immunologic and nonimmunologic sclerodermal skin conditions - review
Scleroderma-like cutaneous lesions have been found in many pathological conditions and they have the clinical appearance of sclerotic or scleroatrophic lesions. Affected skin biopsies described histopathological changes similar to those of scleroderma located strictly on the skin or those of systemic sclerosis. These skin lesions can be found in inflammatory diseases with autoimmune substrate (generalized morphea, chronic graft versus host disease, eosinophilic fasciitis), tissue storage diseases (scleredema, scleromyxedema, nephrogenyc systemic fibrosis, systemic amyloidosis), metabolic diseases (porphyrya cutanea tarda, ...
Source: Frontiers in Immunology - July 12, 2023 Category: Allergy & Immunology Source Type: research
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Par á
ConclusionIn PKU patients from state of Par á, North Region of Brazil, a heterogeneous mutation spectrum was revealed, in which the most frequent mutations are variants commonly observed in other Brazilian studies and in the region of the Iberian Peninsula. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 9, 2023 Category: Genetics & Stem Cells Authors: Pedro E. Bonfim ‐Freitas,
Roseani S. Andrade,
Ândrea K. Ribeiro‐dos‐Santos,
Luiz C. Santana‐da Silva Tags: ORIGINAL ARTICLE Source Type: research
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Par á
CONCLUSION: In PKU patients from state of Pará, North Region of Brazil, a heterogeneous mutation spectrum was revealed, in which the most frequent mutations are variants commonly observed in other Brazilian studies and in the region of the Iberian Peninsula.PMID:37421234 | DOI:10.1002/mgg3.2224 (Source: Molecular Medicine)
Source: Molecular Medicine - July 8, 2023 Category: Molecular Biology Authors: Pedro E Bonfim-Freitas Roseani S Andrade Ândrea K Ribeiro-Dos-Santos Luiz C Santana-da Silva Source Type: research
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Par á
CONCLUSION: In PKU patients from state of Pará, North Region of Brazil, a heterogeneous mutation spectrum was revealed, in which the most frequent mutations are variants commonly observed in other Brazilian studies and in the region of the Iberian Peninsula.PMID:37421234 | DOI:10.1002/mgg3.2224 (Source: Molecular Medicine)
Source: Molecular Medicine - July 8, 2023 Category: Molecular Biology Authors: Pedro E Bonfim-Freitas Roseani S Andrade Ândrea K Ribeiro-Dos-Santos Luiz C Santana-da Silva Source Type: research
Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study
The risk of neuropsychological disorders appears to be high in hyperphenylalaninemia (HPA). The hypothesis of executive function impairment is prominent in accounting for the neuropsychological phenotype in ph... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2023 Category: Internal Medicine Authors: Laetitia Paermentier, Aline Cano, Brigitte Chabrol and Arnaud Roy Tags: Research Source Type: research
Molecules, Vol. 28, Pages 4916: Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis
This study used ex vivo proton nuclear magnetic resonance (1H-NMR) analysis of urine samples from PKU patients (mean 14.9 ± 9.2 years, n = 51) to identify the impact of elevated blood Phe and PKU treatment on metabolic profiles. Our results found that 24 out of 98 urinary metabolites showed a significant difference (p < 0.05) for PKU patients compared to age-matched healthy controls (n = 51) based on an analysis of urinary metabolome. These altered urinary metabolites were related to Phe metabolism, dysbiosis, creatine synthesis or intake, the tricarboxylic acid (TCA) cycle, end products of nicoti...
Source: Molecules - June 22, 2023 Category: Chemistry Authors: Claire Cannet Allan Bayat Georg Frauendienst-Egger Peter Freisinger Manfred Spraul Nastassja Himmelreich Musa Kockaya Kirsten Ahring Markus Godejohann Anita MacDonald Friedrich Trefz Tags: Article Source Type: research
Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations
The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 22, 2023 Category: Internal Medicine Authors: Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson and Rani H. Singh Tags: Research Source Type: research
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France
DISCUSSION: In situations requiring the use of these molecules, we propose as an alternative, the use of an aspartame-free form of these molecules or a form with a low Phe intake. If it is not possible, we propose as second-line the use of another antibiotics or analgesics. Finally, we have to remember the benefits-risk balance to use medications containing significant Phe intake in PKU patients. Indeed, it may be better to use a Phe containing medication in the absence of an aspartame-free form of this drug rather than to leave a person with PKU without treatment.PMID:37291632 | DOI:10.1186/s13023-023-02770-x (Source: Cancer Control)
Source: Cancer Control - June 8, 2023 Category: Cancer & Oncology Authors: Victor Maler Violette Goetz Marine Tardieu Abderrahmane El Khalil Jean Meidi Alili Philippe Meunier Fran çois Maillot Fran çois Labarthe Source Type: research
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France
Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe microcepha... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 8, 2023 Category: Internal Medicine Authors: Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, Fran çois Maillot and François Labarthe Tags: Research Source Type: research
