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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.
F. Spronsen+5 more
semanticscholar +6 more sources
The Adult Phenylketonuria (PKU) Gut Microbiome
Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain proper nutrition.
Viviana J. Mancilla+3 more
semanticscholar +1 more source
Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan+22 more
wiley +1 more source
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+2 more
doaj +1 more source
Nutritional contents of low phenylalanine diets: A mini review
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
The complete European guidelines on phenylketonuria: diagnosis and treatment
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. V. Wegberg+18 more
semanticscholar +1 more source
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+5 more
doaj +1 more source
Phenylalanine Effects on Brain Function in Adult Phenylketonuria
Objective To evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria.
A. Pilotto+18 more
semanticscholar +1 more source
Short-time anesthesia of a child with phenylketonuria: a case report
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+3 more
doaj
Overview of neonatal screening for phenylketonuria in Brazil
Objectives: To present an overview of neonatal screening for phenylketonuria in Brazil. Methodology: An electronic search was made in LILACS, employing the terms “neonatal screening” and “Brazil” and “Phenylketonuria”.
Alessandra B. Trovó de Marqui
doaj +1 more source