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Phenylketonuria

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https://www.readbyqxmd.com/read/29139026/structural-elucidation-of-novel-biomarkers-of-known-metabolic-disorders-based-on-multistage-fragmentation-mass-spectra
#1
Jan Václavík, Karlien L M Coene, Ivo Vrobel, Lukáš Najdekr, David Friedecký, Radana Karlíková, Lucie Mádrová, Aleksanteri Petsalo, Udo F H Engelke, Annemiek van Wegberg, Leo A J Kluijtmans, Tomáš Adam, Ron A Wevers
Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. This is a proof-of-concept study testing this methodology to determine the molecular structure of as yet uncharacterized m/z signals that were significantly increased in plasma samples from patients with phenylketonuria and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency...
November 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29138767/a-facile-method-for-urinary-phenylalanine-measurement-on-paper-based-lab-on-chip-for-pku-therapy-monitoring
#2
M A Messina, C Meli, S Conoci, S Petralia
A miniaturized paper-based lab-on-chip (LoC) was developed for the facile measurement of urinary Phe (phenylalanine) level on PKU (Phenylketonuria) treated patient. This system permits the monitoring of Phe in a dynamic range concentration of 20-3000 μM.
November 15, 2017: Analyst
https://www.readbyqxmd.com/read/29124442/neuropsychological-profile-in-parents-of-adult-phenylketonuria-patients
#3
Gabriella Santangelo, Fausta Piscopo, Franco Santangelo, Luigi Trojano
Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism, causing cognitive and behavioral disorders when not treated. Heterozygotes (i.e., patients' parents) were described with low verbal intelligence quotient, but no study systematically investigated cognitive functions in PKU parents. To obtain a neuropsychological profile in heterozygotes, we compared cognitive performance of heterozygotes and healthy controls (HC) on cognitive battery. Twelve heterozygotes and 14 HCs underwent standardized neuropsychological tasks assessing frontal/executive functions, memory, and visuospatial abilities...
November 9, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29124015/the-influence-of-parental-food-preference-and-neophobia-on-children-with-phenylketonuria-pku
#4
Sharon Evans, Anne Daly, Satnam Chahal, Catherine Ashmore, John MacDonald, Anita MacDonald
Background: In a previous case-control study, we demonstrated that children with PKU and non-PKU controls preferred sweet foods. Additionally, children with PKU exhibited food neophobia, with no preference for bitter tasting foods associated with the taste of phenylalanine (Phe)-free L-amino acid supplements. Objective: In an observational extension study, we evaluated the influence of parental food choice and neophobia on their children's taste preferences and food neophobia...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29117799/subclinical-executive-function-impairment-in-children-with-asymptomatic-treated-phenylketonuria-a-comparison-with-children-with-immunodeficiency-virus
#5
Patrizia Bisiacchi, Vincenza Tarantino, Giovanni Mento
In this study we compared the neuropsychological profile of phenylketonuria (PKU) and human immunodeficiency virus (HIV) to examine the specificity of the executive function (EF) impairment reported in these two patologies. A total of 55 age-matched children and adolescents were assessed, including 11 patients with PKU, 16 patients with HIV and 28 healthy controls, underwent a neuropsychological assessment. Although neither the PKU nor the HIV group scored below the normative ranges, both groups showed lower scores in neuropsychological tests engaging EFs than controls...
November 9, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29114196/phenylketonuria-a-new-look-at-an-old-topic-advances-in-laboratory-diagnosis-and-therapeutic-strategies
#6
REVIEW
Khalid M Sumaily, Ahmed H Mujamammi
Disorders of protein metabolism are the most common diseases among discovered inherited metabolic disorders. Phenylketonuria (PKU), a relatively common disorder that is responsive to treatment, is an inherited autosomal recessive disorder caused by a deficiency in phenylalanine hydroxylase (PAH) or one of several enzymes mediating biosynthesis or regeneration of the PAH cofactor tetrahydrobiopterin. The objective of this review is to discuss therapeutic strategies that have recently emerged for curing patients with PKU, which have demonstrated promising improvements in managing these patients...
November 2017: International Journal of Health Sciences
https://www.readbyqxmd.com/read/29111886/predictive-modelling-of-the-exposure-to-steviol-glycosides-in-irish-patients-aged-1-3-years-with-phenylketonuria-and-cow-s-milk-protein-allergy
#7
Aaron J O'Sullivan, Sandrine Pigat, Cian O'Mahony, Michael J Gibney, Aideen I McKevitt
Children with Phenylketonuria (PKU) and severe cow's milk protein allergy (CMPA) consume prescribed, specially formulated, foods for special medical purposes (FSMPs) as well as restricted amounts of normal foods. These patients are exposed to artificial sweeteners from the consumption of a combination of free and prescribed foods. Young patients with PKU and CMPA have a higher risk of exceeding acceptable daily intakes (ADI) for additives than age-matched healthy children. A predictive modelling approach has been adapted successfully to assess the additive exposure of young patients with PKU and CMPA to artificial sweeteners...
November 7, 2017: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
https://www.readbyqxmd.com/read/29110168/caregiver-quality-of-life-with-tyrosinemia-type-1
#8
Hailey Campbell, Rani H Singh, Eric Hall, Nadia Ali
Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with HT1. Caregivers for 26 children with HT1 completed a questionnaire (TYR-QOL) adapted to this patient population from an existing validated QOL questionnaire (PKU-QOL). Responses were analyzed via domain scores, based on predetermined scoring guidelines. Results suggest HT1 has a moderate overall impact on caregiver QOL, with emotional aspects of the disease having the greatest impact...
November 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29102225/-mild-hyperphenylalaninemia-a-case-series-of-seven-treated-patients-following-newborn-screening
#9
Sarah Viall, Omar Ayyub, Matthew Rasberry, Kelly Lyons, Nicholas Ah Mew
Hyperphenylalaninemia (HPA) is a disorder diagnosed only incidentally by newborn screening, a by-product of screening for classic phenylketonuria (PKU) which, if untreated, causes irreversible neurologic sequelae. In contrast, HPA is thought to have a benign phenotype because phenylalanine (Phe) levels are insufficiently elevated to cause neurological damage, obviating the need for rigorous dietary protein restriction. Phenylalanine below 360μmol/L is generally considered safe, thus this threshold is both the upper therapeutic range for treated PKU and the highest Phe expected to be possible for most individuals with HPA...
October 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#10
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29089407/growth-and-final-height-among-children-with-phenylketonuria
#11
MULTICENTER STUDY
Alena G Thiele, Ruth Gausche, Cornelia Lindenberg, Christoph Beger, Maria Arelin, Carmen Rohde, Ulrike Mütze, Johannes F Weigel, Klaus Mohnike, Christoph Baerwald, Markus Scholz, Wieland Kiess, Roland Pfäffle, Skadi Beblo
BACKGROUND AND OBJECTIVES: Growth is an important criterion to evaluate health in childhood and adolescence, especially in patients depending on special dietary treatment. Phenylketonuria (PKU) is the most common inherited disease of amino acid metabolism. Patients with PKU depend on a special phenylalanine-restricted diet, low in natural protein. The study aimed to evaluate growth, growth rate, and target height in 224 patients with PKU. METHODS: Retrospective, longitudinal analysis of standardized, yearly measurements of height, weight, and calculated growth rate (SD score [SDS]) of patients with PKU aged 0 to 18 years were conducted by using the national computerized CrescNet database...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29057118/multiclinic-observations-on-the-simplified-diet-in-pku
#12
REVIEW
Laurie Bernstein, Casey Burns, Melissa Sailer-Hammons, Angela Kurtz, Frances Rohr
Phenylketonuria is an inborn error of metabolism that historically has been treated with a strict phenylalanine-restricted diet where all foods are weighed and measured. This is cumbersome and difficult for patients and caregivers, especially patients with high phenylalanine blood concentrations who often have neurocognitive deficits. The Simplified Diet is an alternative approach that allows for increased flexibility, promotes healthy food choices, and is easier to manage than a traditional diet for PKU. This paper describes the implementation of the Simplified Diet and outlines education, counseling strategies, and challenges encountered by three metabolic clinics in the United States...
2017: Journal of Nutrition and Metabolism
https://www.readbyqxmd.com/read/29051071/increase-of-bacillus-badius-phenylalanine-dehydrogenase-specificity-towards-phenylalanine-substrate-by-site-directed-mutagenesis
#13
Farzad Yousefi, Farangis Ataei, Seyed Shahriar Arab, Saman Hosseinkhani
Phenylalanine dehydrogenase (PheDH) is a key enzyme in medical diagnostic for determining the amount of phenylalanine to detect phenylketonuria (PKU) disease. However, determination of phenylalanine can be usually disturbed in presence of tyrosine in blood samples. Position N145 of B.sphaericus PheDH, has been previously showed a crucial role in substrate binding, which corresponded by position V144 in B. badius PheDH. In this study, the PheDH of B. badius due to reasonable activity was cloned and subjected to site-directed mutagenesis at mentioned position, followed by kinetic and structural studies to find more exclusive mutants...
October 16, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29032371/reassessing-the-significance-of-the-pah-c-158g-a-p-arg53his-variant-in-patients-with-hyperphenylalaninemia
#14
Rihwa Choi, Jeongho Lee, Hyung-Doo Park, Jong Eun Park, Yong Hyuk Kim, Chang-Seok Ki, Soo-Youn Lee, Junghan Song, Jong-Won Kim, Dong Hwan Lee
BACKGROUND: The accurate interpretation of sequence variation is critical for successful molecular diagnoses. It is also fundamental to the accurate diagnosis and treatment of phenylketonuria (PKU). This study aims to evaluate the significance of the c.158G>A (p.Arg53His) variant in the PAH gene, which was previously reported to be a pathogenic mutation that results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. METHODS: Seven unrelated Korean patients with HPA genotyped with the c...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29030855/extended-experience-of-lower-dose-sapropterin-in-irish-adults-with-mild-phenylketonuria
#15
S Doyle, M O'Regan, C Stenson, J Bracken, U Hendroff, A Agasarova, D Deverell, E P Treacy
Adherence to dietary and treatment recommendations is a long-standing concern for adults and adolescents with PKU and treating clinicians. In about 20-30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The European PKU 2017 Guidelines recommends treatment with BH4 for cases of proven long-term BH4 responsiveness, with a recommended dosage of Sapropterin 10-20 mg/kg/day.We report four young Irish patients with mild PKU, known to be BH4 responsive, who were treated with lower doses of Sapropterin for over 7 years...
October 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29025426/the-complete-european-guidelines-on-phenylketonuria-diagnosis-and-treatment
#16
REVIEW
A M J van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, A M Bosch, A Burlina, J Campistol, F Feillet, M Giżewska, S C Huijbregts, S Kearney, V Leuzzi, F Maillot, A C Muntau, M van Rijn, F Trefz, J H Walter, F J van Spronsen
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method...
October 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28982351/spectrum-of-pah-gene-variants-among-a-population-of-han-chinese-patients-with-phenylketonuria-from-northern-china
#17
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China. METHODS: In total, 655 PKU patients and their families were recruited for this study; each proband was diagnosed both clinically and biochemically with phenylketonuria...
October 5, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28977710/multifaceted-plant-reponses-to-circumvent-phe-hyperaccumulation-by-downregulation-of-flux-through-the-shikimate-pathway-and-by-vacuolar-phe-sequestration
#18
Joseph H Lynch, Irina Orlova, Chengsong Zhao, Longyun Guo, Rohit Jaini, Hiroshi Maeda, Tariq Akhtar, Junellie Cruz-Lebron, David Rhodes, John Morgan, Guillaume Pilot, Eran Pichersky, Natalia Dudareva
Detrimental effects of hyperaccumulation of the aromatic amino acid phenylalanine (Phe) in animals, known as phenylketonuria, are mitigated by excretion of Phe derivatives; however, how plants endure Phe accumulating conditions in the absence of excretion system is currently unknown. To achieve Phe hyperaccumulation in a plant system, we simultaneous decreased in petunia flowers expression of all three Phe ammonia lyase (PAL) isoforms that catalyze the non-oxidative deamination of Phe to trans-cinnamic acid, the committed step for the major pathway of Phe metabolism...
October 4, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28969540/recent-advances-in-the-development-of-pharmaceutical-agents-for-metabolic-disorders-a-computational-perspective
#19
Sridhara Janardhan, Varvara Konova, Alexey Lagunin, Venkateswara Rao, Narahari Sastry, Vladimir Poroikov
BACKGROUND: Metabolic disorders comprise a set of different disorders varying from epidemic diseases such as diabetes mellitus to inborn metabolic orphan diseases such as phenylketonuria. Despite considerable evidence showing the importance of the computational methods in discovery and development of new pharmaceuticals, there are no systematic reviews outlining how they are utilized in the field of metabolic disorders. This review aims to discuss the necessity of the development of web-based tools and databases by integration of available information for solving Big Data problems in network pharmacology of metabolic disorders...
October 2, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28965406/phenylalanine-increases-membrane-permeability
#20
Russell Perkins, Veronica Vaida
Biological membranes are a crucial aspect of living systems, controlling the organization and distribution of different chemical components. Control of membrane permeability is especially important for processes such as electron transport in metabolism and signal propagation in nerve cells. In this work, we show that the amino acid phenylalanine produces increased membrane permeability, which is likely responsible for some of the deleterious symptoms associated with high biological phenylalanine concentrations that occur with the genetic disorder phenylketonuria...
October 9, 2017: Journal of the American Chemical Society
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