Optimization and validation of a bioanalytical HPLC-UV technique for simultaneous determination of underivatized phenylalanine and tyrosine in the blood for phenylketonuria diagnosis and monitoring
This study aimed to develop a fast, accurate, and precise high-performance liquid chromatography with UV detection method for simultaneous analysis of underivatized phenylalanine (Phe) and tyrosine (Tyr) in biological samples. Separation of the analytes was accomplished using a Discovery HS F5-3 column, which offered better retention and peak symmetry for the tested analytes. Chromatographic conditions were optimized using central composite experimental design, and three factors were investigated: the concentration of ammonium acetate (A), the acetonitrile proportion in the mobile phase (B) and the column oven temperature ...
Source: Biomedical Chromatography : BMC - October 5, 2023 Category: Biomedical Science Authors: Hadjira Rabti Mounira Amrane Abdeldjalil Lalaouna Abdenacer Flilissa Yacine Benguerba Source Type: research

Optimization and validation of a bioanalytical HPLC-UV technique for simultaneous determination of underivatized phenylalanine and tyrosine in the blood for phenylketonuria diagnosis and monitoring
This study aimed to develop a fast, accurate, and precise high-performance liquid chromatography with UV detection method for simultaneous analysis of underivatized phenylalanine (Phe) and tyrosine (Tyr) in biological samples. Separation of the analytes was accomplished using a Discovery HS F5-3 column, which offered better retention and peak symmetry for the tested analytes. Chromatographic conditions were optimized using central composite experimental design, and three factors were investigated: the concentration of ammonium acetate (A), the acetonitrile proportion in the mobile phase (B) and the column oven temperature ...
Source: Biomedical Chromatography : BMC - October 5, 2023 Category: Biomedical Science Authors: Hadjira Rabti Mounira Amrane Abdeldjalil Lalaouna Abdenacer Flilissa Yacine Benguerba Source Type: research

Optimization and validation of a bioanalytical HPLC-UV technique for simultaneous determination of underivatized phenylalanine and tyrosine in the blood for phenylketonuria diagnosis and monitoring
This study aimed to develop a fast, accurate, and precise high-performance liquid chromatography with UV detection method for simultaneous analysis of underivatized phenylalanine (Phe) and tyrosine (Tyr) in biological samples. Separation of the analytes was accomplished using a Discovery HS F5-3 column, which offered better retention and peak symmetry for the tested analytes. Chromatographic conditions were optimized using central composite experimental design, and three factors were investigated: the concentration of ammonium acetate (A), the acetonitrile proportion in the mobile phase (B) and the column oven temperature ...
Source: Biomedical Chromatography : BMC - October 5, 2023 Category: Biomedical Science Authors: Hadjira Rabti Mounira Amrane Abdeldjalil Lalaouna Abdenacer Flilissa Yacine Benguerba Source Type: research

Optimization and validation of a bioanalytical HPLC-UV technique for simultaneous determination of underivatized phenylalanine and tyrosine in the blood for phenylketonuria diagnosis and monitoring
This study aimed to develop a fast, accurate, and precise high-performance liquid chromatography with UV detection method for simultaneous analysis of underivatized phenylalanine (Phe) and tyrosine (Tyr) in biological samples. Separation of the analytes was accomplished using a Discovery HS F5-3 column, which offered better retention and peak symmetry for the tested analytes. Chromatographic conditions were optimized using central composite experimental design, and three factors were investigated: the concentration of ammonium acetate (A), the acetonitrile proportion in the mobile phase (B) and the column oven temperature ...
Source: Biomedical Chromatography : BMC - October 5, 2023 Category: Biomedical Science Authors: Hadjira Rabti Mounira Amrane Abdeldjalil Lalaouna Abdenacer Flilissa Yacine Benguerba Source Type: research

Health-related quality of life in a european sample of adults with early-treated classical PKU
Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated class... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2023 Category: Internal Medicine Authors: Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, P éter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp and Regul Tags: Research Source Type: research

Worldwide Newborn Screening and Early Immunizations: Aligning Advances in Preventive Pediatrics
The year 2023 marks the 60th anniversary of the publication in Pediatrics of the landmark paper by Guthrie and Susi describing a simple method for the neonatal detection of phenylketonuria (PKU) on dried blood spots collected on filter paper (often referred to as ‘Guthrie cards’) (1). These filter papers were then used for the presymptomatic detection of congenital hypothyroidism (CH) through the measurement of total T4 and/or TSH. Because newborn screening (NBS) led to cognitive outcomes within the normal range in children with PKU or CH, it was progres sively implemented as a public health program in all high-income ...
Source: The Journal of Pediatrics - September 17, 2023 Category: Pediatrics Authors: Francisca Grob, Isaac Odame, Guy Van Vliet Tags: Commentary Source Type: research

Dietary intake in individuals with phenylketonuria: an integrative review
CONCLUSION: most individuals with PKU have low energy, protein and fiber intake, adequate lipid intake, and high carbohydrate intake. Metabolic control of the disease is still a challenge in all countries. Nutritional strategies to improve dietary nutritional composition and phenylalanine blood levels in individuals with PKU remain an urgent issue.PMID:37705455 | DOI:10.20960/nh.04579 (Source: Nutricion Hospitalaria)
Source: Nutricion Hospitalaria - September 14, 2023 Category: Nutrition Authors: Thais Regina Mezzomo Marcia Regina Messaggi Gomes Dias Tatiane Santos Rosana Marques Pereira Source Type: research

Dietary intake in individuals with phenylketonuria: an integrative review
CONCLUSION: most individuals with PKU have low energy, protein and fiber intake, adequate lipid intake, and high carbohydrate intake. Metabolic control of the disease is still a challenge in all countries. Nutritional strategies to improve dietary nutritional composition and phenylalanine blood levels in individuals with PKU remain an urgent issue.PMID:37705455 | DOI:10.20960/nh.04579 (Source: Nutricion Hospitalaria)
Source: Nutricion Hospitalaria - September 14, 2023 Category: Nutrition Authors: Thais Regina Mezzomo Marcia Regina Messaggi Gomes Dias Tatiane Santos Rosana Marques Pereira Source Type: research

Dietary intake in individuals with phenylketonuria: an integrative review
CONCLUSION: most individuals with PKU have low energy, protein and fiber intake, adequate lipid intake, and high carbohydrate intake. Metabolic control of the disease is still a challenge in all countries. Nutritional strategies to improve dietary nutritional composition and phenylalanine blood levels in individuals with PKU remain an urgent issue.PMID:37705455 | DOI:10.20960/nh.04579 (Source: Nutricion Hospitalaria)
Source: Nutricion Hospitalaria - September 14, 2023 Category: Nutrition Authors: Thais Regina Mezzomo Marcia Regina Messaggi Gomes Dias Tatiane Santos Rosana Marques Pereira Source Type: research

Dietary intake in individuals with phenylketonuria: an integrative review
CONCLUSION: most individuals with PKU have low energy, protein and fiber intake, adequate lipid intake, and high carbohydrate intake. Metabolic control of the disease is still a challenge in all countries. Nutritional strategies to improve dietary nutritional composition and phenylalanine blood levels in individuals with PKU remain an urgent issue.PMID:37705455 | DOI:10.20960/nh.04579 (Source: Nutricion Hospitalaria)
Source: Nutricion Hospitalaria - September 14, 2023 Category: Nutrition Authors: Thais Regina Mezzomo Marcia Regina Messaggi Gomes Dias Tatiane Santos Rosana Marques Pereira Source Type: research

Dietary intake in individuals with phenylketonuria: an integrative review
CONCLUSION: most individuals with PKU have low energy, protein and fiber intake, adequate lipid intake, and high carbohydrate intake. Metabolic control of the disease is still a challenge in all countries. Nutritional strategies to improve dietary nutritional composition and phenylalanine blood levels in individuals with PKU remain an urgent issue.PMID:37705455 | DOI:10.20960/nh.04579 (Source: Nutricion Hospitalaria)
Source: Nutricion Hospitalaria - September 14, 2023 Category: Nutrition Authors: Thais Regina Mezzomo Marcia Regina Messaggi Gomes Dias Tatiane Santos Rosana Marques Pereira Source Type: research

Engineered probiotics introduced to improve intestinal microecology for the treatment of chronic diseases: present state and perspectives
ConclusionThis review summarizes the application of synthetic biology in intestinal microecology-based therapeutics for major chronic diseases and discusses the opportunities and challenges in the above process, providing clinical possibilities of synthetic biology technology applied in microecological therapies. (Source: Journal of Diabetes and Metabolic Disorders)
Source: Journal of Diabetes and Metabolic Disorders - September 5, 2023 Category: Endocrinology Source Type: research

Effects of arginine on coenzyme-Q10 micelle uptake for mitochondria-targeted nanotherapy in phenylketonuria
Drug Deliv Transl Res. 2023 Aug 9. doi: 10.1007/s13346-023-01392-x. Online ahead of print.ABSTRACTPhenylketonuria (PKU) is a rare inherited metabolic disease characterized by phenylalanine hydroxylase enzyme deficiency. In PKU patients, coenzyme Q10 (CoQ10) levels were found low. Therefore, we focused on the modification of CoQ10 to load the micelles and increase entry of micelles into the cell and mitochondria, and it is taking a part in ATP turnover. Micelles had produced by comparing two different production methods (thin-film layer and direct-dissolution), and characterization studies were performed (zeta potential, si...
Source: Cell Research - August 9, 2023 Category: Cytology Authors: Burcu Uner Pankaj Dwivedi Ahmet Do ğan Ergin Source Type: research

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City
CONCLUSIONS: The PAH gene mutations in children with PKU in Yinchuan City are predominantly concentrated in exons 6, 7, and 11, with the highest detection rates observed for p.R252W and p.R261Q mutations.PMID:37553307 | DOI:10.24976/Discov.Med.202335177.54 (Source: Discovery Medicine)
Source: Discovery Medicine - August 8, 2023 Category: Research Authors: Xinyou Yu Fang Liu Bo Wei Meijuan Li Ruiping Lu Lihua Pan Source Type: research