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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
#1
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
#2
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
#3
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
#4
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/29170929/the-validity-of-bioelectrical-impedance-analysis-to-measure-body-composition-in-phenylketonuria
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/29153023/-bone-metabolism-in-adults-with-phenylketonuria-hungarian-data
#8
András Gellért Barta, Csaba Sumánszki, Péter Reismann
INTRODUCTION: Patients with phenylketonuria have lower bone mineral density compared to healthy people, however, the ethiology of these alterations is not clear. Hungarian data were missing in this topic. AIM: The main aim of our study was to survey the correlation between metabolic control and change of bone mineral density in early treated Hungarian adult patients with phenylketonuria. METHOD: In this monocentric study bone mineral density of 59 adult PKU patients have been repeatedly measured in a 4-year interval using dual-energy X-ray absorptiometry...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29138767/a-facile-method-for-urinary-phenylalanine-measurement-on-paper-based-lab-on-chip-for-pku-therapy-monitoring
#9
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
#10
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
#11
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/29119606/pku-21-a-novel-layered-germanate-built-from-ge%C3%A2-and-ge%C3%A2-%C3%A2-clusters-for-co%C3%A2-separation
#12
Jie Liang, Jie Su, Fei Peng, Yongfei Zeng, Junliang Sun
The attractive properties of layered inorganic materials, which make them suitable for numerous applications in chemical industries and life sciences, originated from their crystalline framework structures. Here we report a new layered germanate PKU-21, which was prepared by the hydrothermal synthesis method using 2-propanolamine (MIPA) as the structure-directing agent. The structure of PKU-21 was determined from synchrotron single crystal X-ray diffraction and synchrotron powder X-ray diffraction data. It reveals a complicated framework structure containing 18 unique Ge atoms in the asymmetric unit...
November 9, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29117799/subclinical-executive-function-impairment-in-children-with-asymptomatic-treated-phenylketonuria-a-comparison-with-children-with-immunodeficiency-virus
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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