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https://www.readbyqxmd.com/read/29454001/brain-bioenergetics-in-rats-with-acute-hyperphenylalaninemia
#1
Nádia Weber Dimer, Bruna Klippel Ferreira, Jotele Fontana Agostini, Maria Luiza Gomes, Luiza Wilges Kist, Fernanda Malgarin, Milena Carvalho-Silva, Lara Mezari Gomes, Joyce Rebelo, Marisa Jádna Silva Frederico, Fátima Regina Mena Barreto Silva, Eduardo Pacheco Rico, Mauricio Reis Bogo, Emilio Luiz Streck, Gustavo Costa Ferreira, Patrícia Fernanda Schuck
Phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism caused by deficient phenylalanine hydroxylase activity. The deficiency results in increased levels of Phe and its metabolites in fluids and tissues of patients. PKU patients present neurological signals and symptoms including hypomyelination and intellectual deficit. This study assessed brain bioenergetics at 1 h after acute Phe administration to induce hyperphenylalaninemia (HPA) in rats. Wistar rats were randomized in two groups: HPA animals received a single subcutaneous administration of Phe (5...
February 14, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29433755/vitamin-mineral-and-micronutrient-status-in-patients-with-classical-phenylketonuria
#2
Engin Kose, Nur Arslan
BACKGROUND & AIMS: Strict low-phenylalanine diet is associated with an increased risk of developing micronutrient deficiencies in patients with phenylketonuria (PKU). The primary objective of this single-center, case-control study was to assess the nutritional parameters of patients with PKU on strict low-phenylalanine diet without vitamin and mineral supplementation compared to a healthy control group. Secondary objective was to identify the adequacy of vitamin/mineral supplementation in phenylalanine-free (Phe-free) amino acid formulas...
February 9, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29432026/developmental-trajectories-of-executive-and-verbal-processes-in-children-with-phenylketonuria
#3
Zoë W Hawks, Michael J Strube, Neco X Johnson, Dorothy K Grange, Desirée A White
Phenylketonuria (PKU) is a hereditary disorder characterized by disrupted phenylalanine metabolism and cognitive impairment. However, the precise nature and developmental trajectory of this cognitive impairment remains unclear. The present study used a verbal fluency task to dissociate executive and verbal processes in children with PKU (n = 23; 7-18 years) and controls (n = 44; 7-19 years). Data were collected at three longitudinal timepoints over a three-year period, and the contributions of age, group, and their interaction to fluency performance were evaluated...
February 12, 2018: Developmental Neuropsychology
https://www.readbyqxmd.com/read/29413232/pah-mutation-spectrum-and-correlation-with-pku-manifestation-in-north-jiangsu-province-population
#4
Zhen-Wen Wang, Shi-Wen Jiang, Bao-Cheng Zhou
Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. All 13 exons and their flanking intron sequences of PAH were determined by Ion Torrent PGM™ sequencing. The relationship of genotype and phenotype was analyzed based on the sum of the arbitrary value (AV) values of the two alleles...
February 2018: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/29396030/dnajc12-a-molecular-chaperone-involved-in-proteostasis-pku-biogenic-amines-metabolism-and-beyond
#5
Juliette Bouchereau, Edward L Huttlin, Virginia Guarani, Samia Pichard, Yair Anikster, Manuel Schiff
No abstract text is available yet for this article.
January 29, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29390883/mutational-spectrum-of-the-phenylalanine-hydroxylase-gene-in-patients-with-phenylketonuria-in-the-central-region-of-china
#6
Zhan Zhang, Jun-Jun Gao, Yang Feng, Lin-Lin Zhu, Huan Yan, Xu-Feng Shi, Ai-Min Chang, Ying Shi, Ping Wang
Phenylketonuria (PKU, OMIM 261600) caused by phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disease that is characterized by abnormalities of phenylalanine metabolism. In this study, a total of 77 patients, originating from the central region of China and who were diagnosed with PAH deficiency at the third affiliated hospital of Zhengzhou University, were enrolled in this study. The 13 exons and 12 flanking introns of the PAH gene were analyzed by Sanger sequencing and next generation sequencing...
February 1, 2018: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/29390507/arterial-stiffness-assessment-in-patients-with-phenylketonuria
#7
Alvaro Hermida-Ameijeiras, Vanesa Crujeiras, Iria Roca, Carlos Calvo, Rosaura Leis, María-Luz Couce
In patients with phenylketonuria (PKU) compliant to diet greater tendency to overweight and higher inflammatory biomarkers levels than controls were reported. Although this could lead to atherogenesis, the elastic properties of large arteries in PKU patients have never been assessed. The aim of this study was to assess arterial stiffness measured by applanation tonometry in PKU patients compared to healthy controls.We carried out a cross-sectional study in 41 PKU patients (range age: 6-50 years old) and 41 age- and gender-matched healthy controls...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#8
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29331172/blood-phenylalanine-reduction-corrects-cns-dopamine-and-serotonin-deficiencies-and-partially-improves-behavioral-performance-in-adult-phenylketonuric-mice
#9
Shelley R Winn, Tanja Scherer, Beat Thöny, Ming Ying, Aurora Martinez, Sydney Weber, Jacob Raber, Cary O Harding
Central nervous system (CNS) deficiencies of the monoamine neurotransmitters dopamine and serotonin have been implicated in the pathophysiology of neuropsychiatric dysfunction in human phenylketonuria (PKU). In this study, we confirmed the occurrence of brain dopamine and serotonin deficiencies in association with severe behavioral alterations and cognitive impairments in hyperphenylalaninemic C57BL/6-Pahenu2/enu2 mice, a model of human PKU. Phenylalanine-reducing treatments, including either dietary phenylalanine restriction or liver-directed gene therapy, initiated during adulthood were associated with increased brain monoamine content along with improvements in nesting behavior but without a change in the severe cognitive deficits exhibited by these mice...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29326880/blood-phenylalanine-instability-strongly-correlates-with-anxiety-in-phenylketonuria
#10
Bozena Didycz, Miroslaw Bik-Multanowski
We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected group of 25 PKU teenagers with treatment adherence problems. We demonstrated significant correlations of anxiety with variability of blood phenylalanine concentrations and with severity of hyperphenylalaninemia. Avoiding blood phenylalanine fluctuations in childhood can probably reduce anxiety in PKU adolescents...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29320403/bacillibactin-and-bacillomycin-analogues-with-cytotoxicities-against-human-cancer-cell-lines-from-marine-bacillus-sp-pku-ma00093-and-pku-ma00092
#11
Mengjie Zhou, Fawang Liu, Xiaoyan Yang, Jing Jin, Xin Dong, Ke-Wu Zeng, Dong Liu, Yingtao Zhang, Ming Ma, Donghui Yang
Nonribosomal peptides from marine Bacillus strains have received considerable attention for their complex structures and potent bioactivities. In this study, we carried out PCR-based genome mining for potential nonribosomal peptides producers from our marine bacterial library. Twenty-one "positive" strains were screened out from 180 marine bacterial strains, and subsequent small-scale fermentation, HPLC and phylogenetic analysis afforded Bacillus sp. PKU-MA00092 and PKU-MA00093 as two candidates for large-scale fermentation and isolation...
January 10, 2018: Marine Drugs
https://www.readbyqxmd.com/read/29288420/characterization-of-phenyalanine-hydroxylase-gene-mutations-in-chilean-pku-patients
#12
V Hamilton, L Santa María, K Fuenzalida, P Morales, L R Desviat, M Ugarte, B Pérez, J F Cabello, V Cornejo
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive disease, caused by mutations in the Phenylalanine Hydroxylase (PAH) gene situated in chromosome 12q22-q24.2. This gene has 13 exons. To date, 991 mutations have been described. The genotype is one of the main factors that determine the phenotype of this disease. OBJECTIVE: Characterize PKU genotype and phenotype seen in Chilean PKU patients. METHODS: We studied the PAH gene by restriction fragment length polymorphism (RFLP) and/or sequencing techniques to identify pathogenic mutations in 71 PKU subjects...
December 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29278642/maternal-phenylketonuria-syndrome-studies-in-mice-suggest-a-potential-approach-to-a-continuing-problem
#13
William L Zeile, Helen C McCune, Donald G Musson, Brian O'Donnell, Charles A O'Neill, Laurie S Tsuruda, Roberto T Zori, Philip J Laipis
BACKGROUND: Untreated Phenylketonuria (PKU), one of the most common human genetic disorders, usually results in mental retardation. While a protein-restricted artificial diet can prevent retardation, dietary compliance in adults is often poor. In pregnant PKU women, noncompliance can result in maternal PKU syndrome, where high phenylalanine (Phe) levels cause severe fetal complications. Enzyme substitution therapy using phenylalanine ammonia lyase (PAL) corrects PKU in BTBR phenylalanine hydroxylase (Pahenu2) mutant mice, suggesting a potential for maternal PKU syndrome treatment in humans...
December 21, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29258568/establishing-core-outcome-sets-for-phenylketonuria-pku-and-medium-chain-acyl-coa-dehydrogenase-mcad-deficiency-in-children-study-protocol-for-systematic-reviews-and-delphi-surveys
#14
Beth K Potter, Brian Hutton, Tammy J Clifford, Nicole Pallone, Maureen Smith, Sylvia Stockler, Pranesh Chakraborty, Pauline Barbeau, Chantelle M Garritty, Michael Pugliese, Alvi Rahman, Becky Skidmore, Laure Tessier, Kylie Tingley, Doug Coyle, Cheryl R Greenberg, Lawrence Korngut, Alex MacKenzie, John J Mitchell, Stuart Nicholls, Martin Offringa, Andreas Schulze, Monica Taljaard
BACKGROUND: Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs) for rare diseases. Registry-based RCTs present a unique opportunity to address these challenges provided the registries implement standardized collection of outcomes that are important to patients and their caregivers and to clinical providers and healthcare systems...
December 19, 2017: Trials
https://www.readbyqxmd.com/read/29230603/amp-activated-protein-kinase-activation-in-mediating-phenylalanine-induced-neurotoxicity-in-experimental-models-of-phenylketonuria
#15
Lihua Lu, Xiaoming Ben, Lingling Xiao, Min Peng, Yongjun Zhang
Phenylketonuria (PKU), one of the most prevalent autosomal recessive disorders of amino acid metabolism, is characterized by abnormal accumulation of phenylalanine, which can lead to intellectual disability. The main pathologic changes in the central nervous system of untreated phenylketonuric patients are reductions in the number of axons, dendrites, and synapses in the brain. Such alterations are thought to be mainly associated with the toxic effects caused by phenylalanine. However, the underlying molecular mechanisms have not been fully elucidated...
December 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29184644/incidence-of-neonatal-hyperphenylalaninemia-based-on-high-performance-liquid-chromatography-confirmatory-technique-in-mazandaran-province-northern-iran-2007-2015
#16
Ali Abbaskhanian, Daniel Zamanfar, Parvaneh Afshar, Einollah Asadpoor, Hamed Rouhanizadeh, Ali Jafarnia, Mohammad Shokzadeh
Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran. Methods: In this descriptive-retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confirmatory methods high performance liquid chromatography. Results: Of the 407,244 screened newborns (48...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29184640/investigation-of-five-common-mutations-on-phenylalanine-hydroxylase-gene-of-phenylketonuria-patients-from-two-provinces-in-north-of-iran
#17
Daniel Zamanfar, Hossein Jalali, Mohammad Reza Mahdavi, Morteza Maadanisani, Hossein Zaeri, Eynollah Asadpoor
Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation of untreated patients is severe mental retardation. The PAH gene, that is 90 kb long, is consisted of 13 exons and 12 introns. The aim of the present study was to identify the frequency of five common mutations on PAH gene among patients with PKU in Mazandaran and Golestan provinces including c...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29176022/mutation-analysis-of-the-phenylalanine-hydroxylase-gene-and-prenatal-diagnosis-of-phenylketonuria-in-shaanxi-china
#18
Lin Wang, Xiaobin Wang, Bin He, Na Cai, Wei Li, Chao Lou, Shuwen Xin, Qiuhua Wu, Wenwen Yu, Rong Qiang
BACKGROUND: This study aims to investigate the spectrum and frequency of phenylalanine hydroxylase (PAH) gene mutations and the power to prenatally diagnose phenylketonuria (PKU) patients in Shaanxi, China. METHODS: Polymerase chain reaction (PCR) and DNA sequencing analyses were performed to examine the PAH gene in 33 PKU patients and seven amniotic fluid samples. Thirty-four pathogenic variants were indicated in all 63 alleles, in which two probands carried three variants...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29174366/dnajc12-deficiency-a-new-strategy-in-the-diagnosis-of-hyperphenylalaninemias
#19
REVIEW
Nenad Blau, Aurora Martinez, Georg F Hoffmann, Beat Thöny
Patients with hyperphenylalaninemia (HPA) are detected through newborn screening for phenylketonuria (PKU). HPA is known to be caused by deficiencies of the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). Current guidelines for the differential diagnosis of HPA would, however, miss a recently described DNAJC12 deficiency. The co-chaperone DNAJC12 is, together with the 70kDa heat shock protein (HSP70), responsible for the proper folding of PAH. All DNAJC12-deficient patients investigated to date responded to a challenge with BH4 by lowering their blood phenylalanine levels...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29170929/the-validity-of-bioelectrical-impedance-analysis-to-measure-body-composition-in-phenylketonuria
#20
Maureen Evans, Kay Nguo, Avihu Boneh, Helen Truby
AIM: To compare the measurement of total body water (TBW) and fat-free mass (FFM) using the criterion method of deuterium dilution space ((2)H2O) with bioelectrical impedance analysis (BIA) using a portable QuadScan 4000, Bodystat(®) in children and adolescents with phenylketonuria (PKU). METHODS: Sixteen patients with PKU, median age is 12.5 (range 5-20.6) years, were recruited into this cross-sectional study. TBW was measured by both deuterium dilution and BIA on the same occasion as per a standard protocol...
November 24, 2017: JIMD Reports
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