Quality of Life in Patients with Phenylketonuria: A Systematic Review
This article reviews current researches on the impact of PKU on QoL. The review examines factors that may influence QoL, such as age, metabolic control, and treatment adherence. In this systematic review study, relevant articles were identified using a search strategy built with the keywords phenylketonuria, PKU, or hyperphenylalaninemia (or their synonyms) and QoL in Web of Science, Scopus, and PubMed databases. After identifying the articles, duplicates, reviews, scientific abstracts, articles published in languages other than English, and non relevant studies were excluded. The search strategy identified 951 records fro...
Source: Biomed Res - March 25, 2024 Category: Research Authors: Zahra Jahangiri Noushin Rostampour Silva Hovsepian Rojin Chegini Mahin Hashemipour Source Type: research
Quality of Life in Patients with Phenylketonuria: A Systematic Review
This article reviews current researches on the impact of PKU on QoL. The review examines factors that may influence QoL, such as age, metabolic control, and treatment adherence. In this systematic review study, relevant articles were identified using a search strategy built with the keywords phenylketonuria, PKU, or hyperphenylalaninemia (or their synonyms) and QoL in Web of Science, Scopus, and PubMed databases. After identifying the articles, duplicates, reviews, scientific abstracts, articles published in languages other than English, and non relevant studies were excluded. The search strategy identified 951 records fro...
Source: Adv Data - March 25, 2024 Category: Epidemiology Authors: Zahra Jahangiri Noushin Rostampour Silva Hovsepian Rojin Chegini Mahin Hashemipour Source Type: research
First successful outcomes of pegvaliase (PALYNZIQ) in children
CONCLUSIONS: This report addresses the potential broader applications of Pegvaliase in children, as well as its safety and tolerability in this age group. However, larger sample sizes and robust methodologies are required to validate such findings.PMID:38515136 | DOI:10.1186/s12920-024-01847-1 (Source: Molecular Medicine)
Source: Molecular Medicine - March 22, 2024 Category: Molecular Biology Authors: Majid Alfadhel Rayyan Albarakati Source Type: research
First successful outcomes of pegvaliase (PALYNZIQ) in children
CONCLUSIONS: This report addresses the potential broader applications of Pegvaliase in children, as well as its safety and tolerability in this age group. However, larger sample sizes and robust methodologies are required to validate such findings.PMID:38515136 | PMC:PMC10958957 | DOI:10.1186/s12920-024-01847-1 (Source: Molecular Medicine)
Source: Molecular Medicine - March 22, 2024 Category: Molecular Biology Authors: Majid Alfadhel Rayyan Albarakati Source Type: research
Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations
In this study, we report an asymptomatic adult with mHPA who had never taken any medical intervention to control or lower her serum phenylalanine level (Phe). She had 179 μmol/L serum phenylalanine level and carried p.[V230A];[V230I] genotype. Her child was affected with phenylketonuria and had p.[V230A];[V230A] g enotype. Both pathogenic variants detected in the asymptomatic adult with mHPA were computationally analyzed to assess their pathogenicity and the p.V230I pathogenic variant was demonstrated to be responsible for the mHPA phenotype in the asymptomatic adult detected in this study. The findings in th is study c...
Source: Clinical Case Reports - March 13, 2024 Category: General Medicine Authors: Faeze Khaghani,
Peyman Eshraghi,
Tayebeh Hamzehloei Tags: CASE REPORT Source Type: research
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
ConclusionsThis study highlights the importance of PGT-M in preventing children born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - March 12, 2024 Category: Reproduction Medicine Source Type: research
Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
Biophys Chem. 2024 Feb 27;308:107215. doi: 10.1016/j.bpc.2024.107215. Online ahead of print.ABSTRACTPhenylketonuria is characterized by the accumulation of phenylalanine, resulting in severe cognitive and neurological disorders if not treated by a remarkably strict diet. There are two approved drugs today, yet both provide only a partial solution. We have previously demonstrated the formation of amyloid-like toxic assemblies by aggregation of phenylalanine, suggesting a new therapeutic target to be further pursued. Moreover, we showed that compounds that halt the formation of these assemblies also prevent their resulting t...
Source: Biophysical Chemistry - March 3, 2024 Category: Chemistry Authors: Shira Shaham-Niv Assaf Ezra Dor Zaguri Stav Roni Shotan Elvira Haimov Hamutal Engel Tamara Brider Luba Simhaev Haim Michael Barr Lihi Adler-Abramovich Ehud Gazit Source Type: research
Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
Biophys Chem. 2024 Feb 27;308:107215. doi: 10.1016/j.bpc.2024.107215. Online ahead of print.ABSTRACTPhenylketonuria is characterized by the accumulation of phenylalanine, resulting in severe cognitive and neurological disorders if not treated by a remarkably strict diet. There are two approved drugs today, yet both provide only a partial solution. We have previously demonstrated the formation of amyloid-like toxic assemblies by aggregation of phenylalanine, suggesting a new therapeutic target to be further pursued. Moreover, we showed that compounds that halt the formation of these assemblies also prevent their resulting t...
Source: Biophysical Chemistry - March 3, 2024 Category: Chemistry Authors: Shira Shaham-Niv Assaf Ezra Dor Zaguri Stav Roni Shotan Elvira Haimov Hamutal Engel Tamara Brider Luba Simhaev Haim Michael Barr Lihi Adler-Abramovich Ehud Gazit Source Type: research
Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
Biophys Chem. 2024 Feb 27;308:107215. doi: 10.1016/j.bpc.2024.107215. Online ahead of print.ABSTRACTPhenylketonuria is characterized by the accumulation of phenylalanine, resulting in severe cognitive and neurological disorders if not treated by a remarkably strict diet. There are two approved drugs today, yet both provide only a partial solution. We have previously demonstrated the formation of amyloid-like toxic assemblies by aggregation of phenylalanine, suggesting a new therapeutic target to be further pursued. Moreover, we showed that compounds that halt the formation of these assemblies also prevent their resulting t...
Source: Biophysical Chemistry - March 3, 2024 Category: Chemistry Authors: Shira Shaham-Niv Assaf Ezra Dor Zaguri Stav Roni Shotan Elvira Haimov Hamutal Engel Tamara Brider Luba Simhaev Haim Michael Barr Lihi Adler-Abramovich Ehud Gazit Source Type: research
Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
Biophys Chem. 2024 Feb 27;308:107215. doi: 10.1016/j.bpc.2024.107215. Online ahead of print.ABSTRACTPhenylketonuria is characterized by the accumulation of phenylalanine, resulting in severe cognitive and neurological disorders if not treated by a remarkably strict diet. There are two approved drugs today, yet both provide only a partial solution. We have previously demonstrated the formation of amyloid-like toxic assemblies by aggregation of phenylalanine, suggesting a new therapeutic target to be further pursued. Moreover, we showed that compounds that halt the formation of these assemblies also prevent their resulting t...
Source: Biophysical Chemistry - March 3, 2024 Category: Chemistry Authors: Shira Shaham-Niv Assaf Ezra Dor Zaguri Stav Roni Shotan Elvira Haimov Hamutal Engel Tamara Brider Luba Simhaev Haim Michael Barr Lihi Adler-Abramovich Ehud Gazit Source Type: research
Phenylketonuria from the perspectives of patients in T ürkiye
The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in T ürkiye regarding follow-up and treatment in order to provide data for future planning and i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 20, 2024 Category: Internal Medicine Authors: Merve Esgi, Hakan Ergun, Nazmi Yalcin Kaya, Deniz Yilmaz Atakay, Ege Erucar and Fatma Celik Tags: Research Source Type: research
Roles of the N-terminal motif in improving the activity and soluble expression of phenylalanine ammonia lyases in Escherichia coli
In this study, we aligned the amino acid sequences of AvPAL and PAL derived from Nostoc punctiforme (NpPAL) to obtain several mutants with enhanced activity, expression yield, and thermal stability via amino acid substitution and saturation mutagenesis at the N-terminal position. Enzyme kinetic experiments revealed that the kcat values of NpPAL-N2K, NpPAL-I3T, and NpPAL-T4L mutants were increased to 3.2-, 2.8-, and 3.3-fold that of the wild-type, respectively. Saturation mutagenesis of the fourth amino acid in AvPAL revealed that the kcat values of AvPAL-L4N, AvPAL-L4P, AvPAL-L4Q and AvPAL-L4S increased to 4.0-, 3.7-, 3.6-...
Source: International Journal of Biological Macromolecules - February 17, 2024 Category: Biochemistry Authors: Shuai Fan Xiyu Wei Ruijie L ü Cuiyue Feng Qian Zhang Xudong L ü Yuanyuan Jin Maocai Yan Zhaoyong Yang Source Type: research
The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU)
Clinical advice may suggest discontinuing breastfeeding after the diagnosis of phenylketonuria in infants as the only effective way to monitor the newborn's intake and accurate measurement of phenylalanine (Ph... (Source: International Breastfeeding Journal)
Source: International Breastfeeding Journal - February 13, 2024 Category: Nursing Authors: Zaniar Mohammadzadeh, Loghman Sharifi, Asadolah Fatholahpour and Elham Bazshahi Tags: Research Source Type: research
Recent trends in targeted delivery of smart nanocarrier-based microbial enzymes for therapeutic applications
Drug Discov Today. 2024 Feb 8:103915. doi: 10.1016/j.drudis.2024.103915. Online ahead of print.ABSTRACTSmart carrier-based immobilization has widened the use of enzymes for the treatment of several disorders. Large surface areas, tunable morphology, and surface modification ability aid the targeted and controlled release of therapeutic enzymes from such formulations. Smart nanocarriers, such as polymeric carriers, liposomes, and silica have also increased the stability, half-life, and permeability of these enzymes. In this review, summarize recent advances in the smart immobilization of microbial enzymes and their developm...
Source: Drug Discovery Today - February 10, 2024 Category: Drugs & Pharmacology Authors: Nikita Jangra Anubhuti Kawatra Bharti Datten Shefali Gupta Pooja Gulati Source Type: research
