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Showing 1 to 14 of 14 for “"Phenylketonuria (PKU)"”.
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The progression of white matter abnormalities in individuals with early-treated phenylketonuria (PKU)
… OF MISSOURI SYSTEM AT REQUEST OF AUTHOR.] Phenylketonuria (PKU) is a rare autosomal recessive disorder characterized by a disruption in the ability to metabolize phenylalanine (phe) into tyrosine, a precursor for dopamine and other catecholamines. Even with early and continuous treatment, …
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Development of a Field-Use Paper-Based PKU Test Using Colorimetric Readout
Current newborn screening programs for phenylketonuria (PKU) do not reach many individuals, worldwide, who would benefit from testing. Existing PKU tests require a high-resource laboratory, as well as a base level of local infrastructure, which prohibits their use in low-resource settings. In this …
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Assessment of Parenting Stress as Measured by the Parenting Stress Index-Short Form Related to Treatment and Management of a Child with Phenylketonuria
… stress in parents/caregivers of children with phenylketonuria (PKU) and factors associated with stress levels were evaluated, using the Parenting Stress Index-Short Form, in this study. Participants were parents and children with PKU who attend the University of Washington PKU Clinic in …
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The effects of tetrahydrobiopterin (BH4) treatement on nonverbal working memory-related brain activations and connectivity in individuals with phenylketonuria
… REQUEST.] Previous research suggests that phenylketonuria (PKU) is associated with disruptions in structural and functional connectivity that may contribute to impairments in working memory. In many patients with PKU, tetrahydrobiopterin (BH4) treatment has been shown to reduce blood phe …
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Processing Speed and Executive Abilities in Children with Phenylketonuria
Objective: Phenylketonuria: PKU) is a hereditary metabolic disorder that often results in neuropsychological impairment, even in individuals treated early and continuously. This study was conducted to examine processing speed, variability in processing speed, and the relationship between processing …
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Quantitative Analysis of Normal-Appearing White Matter In Pediatric Phenylketonuria
<p>Phenylketonuria (PKU) is a metabolic disorder that results in white matter abnormalities with varying degrees of severity. The analysis of brain structure in children with PKU using magnetic resonance imaging (MRI) has been limited by the reliance on qualitative data to characterize white matter …
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Mathematical approaches to food nutrient content estimation with a focus on phenylalanine
… An example of such dietary treatments is for phenylketonuria (PKU), for which patients must follow a low-phenylalanine diet for life. Some food databases provide the phenylalanine (Phe) content for a large number of unprocessed foods, and a limited number of composite foods; however, they are …
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Considering consent : an analysis of factors influencing parental perceptions of decisional quality in the context of newborn screening
… after birth. In the UK babies are screened for phenylketonuria (PKU), congenital hypothyroidism (CH), sickle cell diseases (SCD), cystic fibrosis (CF) and medium chain acyl-CoA dehydrogenase deficiency (MCADD), with Duchenne muscular dystrophy (DMD) offered as additional screen in Wales. Much …
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“The Holy Grail of PKU Support”: Exploring the Psychosocial Impacts of Camps for Kids with Phenylketonuria
<p>Individuals with phenylketonuria (PKU) face unique psychosocial struggles such as social isolation, bullying, frustration, and embarrassment, largely due to the strict diet used to manage the condition. Disease-specific camps (DSCs) allow children with chronic and/or life-threatening conditions …
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Factors affecting metabolism and metabolic control in phenylketonuria
Phenylketonuria (PKU) is an inherited metabolic disorder treated by a phenylalanine restricted diet in order to avoid neurocognitive impairment. Blood phenylalanine is the main outcome marker which is modulated by many dietary factors. Traditionally, L-amino acid-based protein substitutes are the …
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A PROTEIN IN SEARCH OF FUNCTION: NIPSNAP1 IN MITOCHONDRIAL BRANCHED-CHAIN AMINO ACID METABOLON, BRAIN AND APOPTOSIS
… in neurologic dysfunction. Studies in brains of phenylketonuria (PKU) and epileptic mice show altered expression of NIPSNAP1. In this study we investigated potential roles for rat NIPSNAP1 in BCAA metabolism and in brain using a variety of different approaches. We characterized the …
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Assessing The Impact of Camp Phever On Blood Phenylalanine Levels
<p>Phenylketonuria (PKU) is a metabolic disorder that results in accumulation of the amino acid, phenylalanine, throughout the body. This can result in neurocognitive complications if individuals with this disease do not follow a low-protein diet. Camp PHEver is a weeklong summer camp that gives …
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The Impact of Treatment With Palynziq® On Quality of Life For Individuals With Pku
<p>Management for phenylketonuria (PKU) has traditionally involved adhering to a strict low-protein diet to maintain phenylalanine (Phe) levels within the recommended range (μmol/L). The time commitment and financial, emotional, and social burdens of adhering to a restrictive diet, as well as the …
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Metabolic Disorders Rewire Systemic and Tumor Immunity to Shape Anti-Tumor Responses in Cancer Patients
<p>The global rise in metabolic diseases such as obesity and metabolic dysfunction-associated steatohepatitis (MASH) has created a major challenge for cancer immunotherapy. Individuals with these conditions face higher cancer incidence and respond poorly to immune checkpoint inhibitors and cellular …