Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers
CONCLUSIONS: Our data showed that patients with PKU and their caregivers reported difficulties in adherence to diet therapy and indicated interest in new therapeutic approaches. Apparent differences between patient and caregiver perspectives were identified. More informational resources on PKU are needed.PMID:38646665 | DOI:10.1080/03007995.2024.2337662 (Source: Current Medical Research and Opinion)
Source: Current Medical Research and Opinion - April 22, 2024 Category: Research Authors: Valentina Rovelli Annamaria Dicintio Chiara Cazzorla Source Type: research
Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers
CONCLUSIONS: Our data showed that patients with PKU and their caregivers reported difficulties in adherence to diet therapy and indicated interest in new therapeutic approaches. Apparent differences between patient and caregiver perspectives were identified. More informational resources on PKU are needed.PMID:38646665 | DOI:10.1080/03007995.2024.2337662 (Source: Epilepsy Curr)
Source: Epilepsy Curr - April 22, 2024 Category: Neurology Authors: Valentina Rovelli Annamaria Dicintio Chiara Cazzorla Source Type: research
Newborn screening in France: news and perspectives
Ann Biol Clin (Paris). 2024 Apr 19;82(1):24-31. doi: 10.1684/abc.2024.1869.ABSTRACTNewborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias...
Source: Annales de Biologie Clinique - April 19, 2024 Category: Biochemistry Authors: Emeline Gernez Estelle Roland Claire-Marie Dhaenens Gilles Renom Karine Mention Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: The American Journal of Clinical Nutrition)
Source: The American Journal of Clinical Nutrition - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: Am J Clin Nutr)
Source: Am J Clin Nutr - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: The American Journal of Clinical Nutrition)
Source: The American Journal of Clinical Nutrition - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: Am J Clin Nutr)
Source: Am J Clin Nutr - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: The American Journal of Clinical Nutrition)
Source: The American Journal of Clinical Nutrition - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: Am J Clin Nutr)
Source: Am J Clin Nutr - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: The American Journal of Clinical Nutrition)
Source: The American Journal of Clinical Nutrition - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial
CONCLUSIONS: In early-treated adult patients with PKU, a 4-week high Phe intake was noninferior to continuing Phe restriction regarding working memory accuracy, and secondary outcomes did not differ except for sustained attention. Longer-term RCTs are required to determine whether low Phe levels need to be maintained throughout different periods of adulthood. This trial was registered at the clinicaltrials.gov as NCT03788343.PMID:38569786 | DOI:10.1016/j.ajcnut.2023.11.007 (Source: Am J Clin Nutr)
Source: Am J Clin Nutr - April 3, 2024 Category: Nutrition Authors: Roman Trepp Raphaela Muri Stephanie Maissen-Abgottspon Alan G Haynes Michel Hochuli Regula Everts Source Type: research
IJERPH, Vol. 21, Pages 431: Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels
Conclusions: Sapropterin dihydrochloride enhances Phe tolerance in patients with PKU. Increasing blood Phe fluctuations following enhanced Phe tolerance may indicate that the treatment not only allows patients to relax their Phe-restricted diet but also may support cognitive development in patients. (Source: International Journal of Environmental Research and Public Health)
Source: International Journal of Environmental Research and Public Health - April 2, 2024 Category: Environmental Health Authors: Reinhold Feldmann Ulrike Och Lisa Sophie Beckmann Josef Weglage Frank Rutsch Tags: Article Source Type: research
Establishment of Age Specific Reference Interval for Aminoacids and Acylcarnitine in Dried Blood Spot by Tandem Mass Spectrometry
This study was proposed to establish age specific reference internal for aminoacids and acylcartinitine in dried blood spot by tandem mass spectrometry. A total of 480 apparently healthy children were enrolled for the study and sub classified into four groups as follows: Group A: 0 –1 month, Group B: 1 month–1 year, Group C: 1–5 year and Group D: 5–12 years each having 120 participants. Sample size were calculated as per CLSI approved guidelines. Tables1 and2 presents the age-specific percentile distribution of aminoacids and acylcarnitines established from healthy subjects as per rank-based method recommended...
Source: Indian Journal of Clinical Biochemistry - April 1, 2024 Category: Biochemistry 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: 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
