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Phenylketonuria

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https://www.readbyqxmd.com/read/29331172/blood-phenylalanine-reduction-corrects-cns-dopamine-and-serotonin-deficiencies-and-partially-improves-behavioral-performance-in-adult-phenylketonuric-mice
#1
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
#2
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/29318410/flux-analysis-of-inborn-errors-of-metabolism
#3
D-J Reijngoud
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited to study this. In this review the progress made in characterizing the altered metabolism will be presented...
January 9, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29316886/correction-to-spectrum-of-pah-gene-variants-among-a-population-of-han-chinese-patients-with-phenylketonuria-from-northern-china
#4
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong
Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be " p.Ser339Phe c.1016C>T " (as given in Number 117 of Additional file 2).
January 9, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29288420/characterization-of-phenyalanine-hydroxylase-gene-mutations-in-chilean-pku-patients
#5
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/29285660/effect-of-blood-phenylalanine-levels-on-oxidative-stress-in-classical-phenylketonuric-patients
#6
Burcu Kumru, Davut Sinan Kaplan, Burcu Oztürk Hismi, Hakim Celik
Mental retardation, which occurs in phenylketonuric patients, is associated with increased levels of phenylalanine, increased oxidative stress, and an imbalance of amino acids in the brain. Recent studies have shown that oxidative stress plays a role in the pathogenesis of phenylketonuria. In this work, we aimed to compare the influence of blood phenylalanine levels on oxidative stress parameters in phenylketonuric patients who divided patients into groups according to blood Phe levels during follow-up visits and compared these groups with healthy controls...
December 28, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/29278642/maternal-phenylketonuria-syndrome-studies-in-mice-suggest-a-potential-approach-to-a-continuing-problem
#7
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
#8
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
#9
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/29215646/follow-up-status-during-the-first-5-years-of-life-for-metabolic-disorders-on-the-federal-recommended-uniform-screening-panel
#10
Lisa Feuchtbaum, Juan Yang, Robert Currier
PurposeTo investigate the 5-year follow-up status for newborns diagnosed with metabolic disorders designated as "primary disorders" on the federal Recommended Uniform Screening Panel (RUSP).MethodsFollow-up status and demographic characteristics are described for 426 newborns diagnosed with one of 20 primary metabolic disorders on the RUSP between 2005 and 2009. Newborn screening program data were linked to birth certificate data. Follow-up status is described for each year through age 5 and by disorder type...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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
#11
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
#12
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/29178638/living-with-a-rare-disorder-a-systematic-review-of-the-qualitative-literature
#13
REVIEW
Charlotte von der Lippe, Plata S Diesen, Kristin B Feragen
BACKGROUND: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. METHODS: We performed a systematic review, including qualitative studies on adults, published between 2000 and 2016...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29176022/mutation-analysis-of-the-phenylalanine-hydroxylase-gene-and-prenatal-diagnosis-of-phenylketonuria-in-shaanxi-china
#14
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/29175141/large-neutral-amino-acid-supplementation-as-an-alternative-to-the-phenylalanine-restricted-diet-in-adults-with-phenylketonuria-evidence-from-adult-pah-enu2-mice
#15
Danique van Vliet, Els van der Goot, Vibeke M Bruinenberg, Martijn van Faassen, Pim de Blaauw, Ido P Kema, M Rebecca Heiner-Fokkema, Eddy A van der Zee, Francjan J van Spronsen
Phenylketonuria treatment mainly consists of a phenylalanine-restricted diet but still results in suboptimal neuropsychological outcome, which is at least partly based on cerebral monoamine deficiencies, while, after childhood, treatment compliance decreases. Supplementation of large neutral amino acids (LNAAs) was previously demonstrated in young phenylketonuria mice to target all three biochemical disturbances underlying brain dysfunction in phenylketonuria. However, both its potential in adult phenylketonuria and the comparison with the phenylalanine-restricted diet remain to be established...
October 12, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29174366/dnajc12-deficiency-a-new-strategy-in-the-diagnosis-of-hyperphenylalaninemias
#16
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...
November 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29172658/-tetrahydrobiopterin-bh4-deficiency-diagnosis-and-treatment
#17
János Bókay
Since the initial breaking discovery of Følling that the severe neurological consequences of phenylketonuria could be prevented by use of low phenylalanine (Phe) diet, it has been shortly recognised that defective phenylalanine metabolism may also arise from the deficiency of tetrahydrobiopterin (BH4) cofactor, required for phenylalanine-hydroxylase activity. Furthermore, as BH4 is in Phe metabolism, it is also a cofactor for the activities of tyrosine hydroxylase and tryptophane hydroxylase, enzymes required for the synthesis of catecholamines and serotonin neurotransmitters...
December 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29170929/the-validity-of-bioelectrical-impedance-analysis-to-measure-body-composition-in-phenylketonuria
#18
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
https://www.readbyqxmd.com/read/29167077/the-effects-of-breastfeeding-in-infants-with-phenylketonuria
#19
Engin Kose, Betul Aksoy, Pinar Kuyum, Nilhan Tuncer, Nur Arslan, Yesim Ozturk
PURPOSE: In the early years of phenylketonuria (PKU) treatment, mothers and healthcare professionals often decide to discontinue breastfeeding after the diagnosis of PKU in infants. It was believed to be the only effective way to monitor the infant's intake and allow for precise titration and measurement of the intake of phenylalanine (Phe). In the early 1980s, with the determination of low concentration of Phe in breast milk, breast milk supplemented with Phe-free formula has become an acceptable dietary treatment for infants with PKU...
October 19, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29154227/generation-of-integration-free-induced-pluripotent-stem-cell-line-njmui001-a-from-a-phenylketonuria-patient
#20
Tianhui Xu, Dong Liang, Jingjing Zhang, Xiuqing Ji, Huanran Hu, Yun Sun, Tao Jiang, Xia Wang, Ping Hu, Zhengfeng Xu
PKU is a prevalent type of inherited metabolic disease, caused by the defective phenylalanine metabolism. In most PKU cases, mutations in the PAH gene could be found. Dysfunction of this hepatic enzyme will lead to diverse clinical symptoms due to a failure in converting phenylalanine into tyrosine. Here, we report an integration-free human induced pluripotent stem cell line (NJMUi001-A) generated from peripheral blood mononuclear cells of a PKU patient by using Sendai virus. This iPS cell line has characteristics of pluripotent stem cells and can be used as a useful tool for the investigation of this inherited metabolic disease...
November 10, 2017: Stem Cell Research
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