Results 1 to 10 of about 11,165 (169)

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

Maternal phenylketonuria [PDF]

Journal of Pediatric and Neonatal Individualized Medicine, 2013
Phenylketonuria is a hereditary metabolic disorder inherited in an autosomal recessive pattern. Elevated phenylalanine levels in a pregnant woman with phenylketonuria result in phenylalanine embryopathy.
Kristina Štuikienė, Dalia Stonienė, Jūratė Buinauskienė, Aušrelė Kudrevičienė, Eglė Markūnienė, Rasa Tamelienė   +5 more
doaj   +3 more sources

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial [PDF]

Journal of Comparative Effectiveness Research
What is this summary about? This plain language summary is based on an article about the APHENITY trial that was published in The Lancet journal in October 2024.
Ania C Muntau, Sarah Gallagher, Melissa Lah, Amaya Belanger-Quintana, Nicola Longo   +4 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

Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation [PDF]

Metabolites
Background/Objectives: Skeletal impairment has been reported as a common finding in Hyperphenylalaninemia (HPA)/Phenylketonuria (PKU) patients regardless of age and method of diagnosis, both in children and adults.
Albina Tummolo, Giada De Ruvo, Marta Di Nicola, Vito Di Tullio, Livio Melpignano, Donatella De Giovanni, Rosa Carella   +6 more
doaj   +2 more sources

Phenylketonuria

Nature Reviews Disease Primers, 2021
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems.
Francjan J, van Spronsen, Nenad, Blau, Cary, Harding, Alberto, Burlina, Nicola, Longo, Annet M, Bosch   +5 more
openaire   +5 more sources

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   +1 more source

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

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

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