Impact of gut probiotic metabolites on phenylketonuria [PDF]
Frontiers in Cellular and Infection MicrobiologyPhenylketonuria is an unusual inherited metabolic disease induced by mutations of the phenylalanine hydroxylase gene, resulting in phenylalanine accumulation.
Anjana Kalla Veedu +3 more
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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 +5 more
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Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria [PDF]
Frontiers in Neuroscience, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pahenu2 (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Francesca Nardecchia +17 more
doaj +4 more sources
Crianças com fenilcetonúria: avaliação audiológica básica e supressão das otoemissões Children with phenylketonuria: basic audiological evaluation and suppression of otoacoustic emissions [PDF]
Revista da Sociedade Brasileira de Fonoaudiologia, 2012 OBJETIVO: Avaliar a via auditiva de crianças com fenilcetonúria tratadas precocemente, por meio de audiometria, imitanciometria e supressão das emissões otoacústicas transientes. MÉTODOS:Estudo prospectivo transversal comparativo com amostra composta por
Patrícia Souza Ribeiro +4 more
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Living with Phenylketonuria: Lessons from the PKU community [PDF]
Molecular Genetics and Metabolism Reports, 2018 Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.
Suzanne Ford +2 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 ResearchWhat 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 +4 more
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Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation [PDF]
MetabolitesBackground/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 +6 more
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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 +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 +3 more
doaj +1 more source
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 +9 more
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