Results 1 to 10 of about 17,388 (185)

Short-time anesthesia of a child with phenylketonuria: a case report

Brazilian Journal of Anesthesiology, 2021
Phenylketonuria is a rare disorder that increases the levels of phenylalanine in the blood. As there are scant articles about anesthesia management in phenylketonuria patients, this encouraged us to report a short-time anesthesia management of a child ...
Masoud Tarbiat, Sayed Ahmad Reza Salimbahrami, Ali Goudarzi, Mahmoud Rezaei   +3 more
doaj   +2 more sources

Impact of gut probiotic metabolites on phenylketonuria [PDF]

Frontiers in Cellular and Infection Microbiology
Phenylketonuria is an unusual inherited metabolic disease induced by mutations of the phenylalanine hydroxylase gene, resulting in phenylalanine accumulation.
Anjana Kalla Veedu, Sujithra Vijayakumar, Hannah A. Joseph, John Thomas   +3 more
doaj   +2 more sources

Evaluation of primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria in Alexandria [PDF]

BMC Nursing
Introduction Nurses play a crucial role in the primary prevention of phenylketonuria (PKU) within national screening programs for newborns. This is achieved through consult with the child’s provider promptly to arrange a PKU test, accurate collection of ...
Esraa Mohammed Abd El-Samie Ismail, Wafaa Mohamed Elarousy, Shaymaa Saeed Mohamed Badawe, Rasha Mohamed Abohadida   +3 more
doaj   +2 more sources

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +2 more sources

Helicobacter pylori Infection in Children with Phenylketonuria Does Not Depend on Metabolic Control and Is Not More Frequent Than in Healthy Subjects—A Cross-Sectional Study

Children, 2021
In a small preliminary study, phenylketonuria and poor metabolic control were suggested as risk factors for Helicobacter pylori infection in children as detected with an antigen stool test.
Marek Walkowiak, Łukasz Kałużny, Renata Mozrzymas, Małgorzata Jamka, Bożena Mikołuć, Joanna Jagłowska, Ewa Starostecka, Roza Nurgaliyeva, Jarosław Walkowiak, Aleksandra Lisowska   +9 more
doaj   +1 more source

Prevention of maternal phenylketonuria. Dietary management in the preconception period and during pregnancy

Pediatria i Medycyna Rodzinna, 2018
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska, Kamil Konrad Hozyasz, Maria Nowacka   +2 more
doaj   +1 more source

Nutritional contents of low phenylalanine diets: A mini review

Пищевые системы, 2023
Increased interest in the utilization of nutrition management of patients with phenylketonuria is clear. Applications include a small measured amount of phenylalanine given in the form of exchange food, phenylalanine-free protein substitute and low ...
A. S. M. Ammar
doaj   +1 more source

Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis [PDF]

Clinical and Experimental Pediatrics, 2020
Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity.
Hamid Reza Shoraka, Ali Akbar Haghdoost, Mohammad Reza Baneshi, Zohre Bagherinezhad, Farzaneh Zolala   +4 more
doaj   +1 more source

Genotype-phenotype correlation in phenylketonuria [PDF]

Romanian Journal of Pediatrics, 2021
Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors.
Alin Remus Iuhas, Claudia Jurca, Marius Bembea   +2 more
doaj   +1 more source

Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria

Data in Brief, 2017
This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low ...
Bridget M. Stroup, Sangita G. Murali, Nivedita Nair, Emily A. Sawin, Fran Rohr, Harvey L. Levy, Denise M. Ney   +6 more
doaj   +1 more source