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Phenylketonuria

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https://www.readbyqxmd.com/read/28224082/clinical-characteristics-of-adult-patients-with-inborn-errors-of-metabolism-in-spain-a-review-of-500-cases-from-university-hospitals
#1
J Pérez-López, L Ceberio-Hualde, J S García-Morillo, J M Grau-Junyent, A Hermida Ameijeiras, M López-Rodríguez, J C Milisenda, M Moltó Abad, M Morales-Conejo, J J Nava Mateos
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28218773/risk-factors-for-birth-defects
#2
Benjamin S Harris, Katherine C Bishop, Hanna R Kemeny, Jennifer S Walker, Eleanor Rhee, Jeffrey A Kuller
Importance: Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic, involving multiple organ systems, or can be isolated. Overall, 2% to 4% of live births involve congenital abnormalities. Risk factors for birth defects are categorized as modifiable and nonmodifiable. Modifiable risk factors require thorough patient education/counseling. The strongest risk factors, such as age, family history, and a previously affected child, are usually nonmodifiable...
February 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28182360/mutation-analysis-in-classical-phenylketonuria-patients-followed-by-detecting-haplotypes-linked-to-some-pah-mutations
#3
Fatemeh Dehghanian, Mohammad Silawi, Seyed M B Tabei
BACKGROUND: Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations...
February 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28168360/nenad-blau-ed-phenylketonuria-and-bh4-deficiencies-3rd-edition-2016-112-pp-39-80-euro-isbn-978-3-8374-1526-1
#4
Avihu Boneh
No abstract text is available yet for this article.
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28165881/subtle-visuomotor-deficits-and-reduced-benefit-from-practice-in-early-treated-phenylketonuria
#5
Claudia Caprile, Jaume Campistol, Laura Puigcerver, Alfonso-Pablo Gutiérrez-Mata, Itziar Alonso-Colmenero, Roser Colomé, Jordi Navarra
INTRODUCTION: Phenylketonuria (PKU) is a rare metabolic disease that causes slight-to-severe neurological symptoms. Slow performance has been observed in PKU but the influence of high-order (i.e., not purely motor) deficits and of temporary variations of the phenylalanine (Phe) level on this slowness has not been fully corroborated as yet. Response speed and the effect of motor practice during the performance of a visuomotor coordination task were measured, in a group of patients with early-treated phenylketonuria (ET PKU)...
February 6, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28162992/adherence-to-clinic-recommendations-among-patients-with-phenylketonuria-in-the-united-states
#6
E R Jurecki, S Cederbaum, J Kopesky, K Perry, F Rohr, A Sanchez-Valle, K S Viau, M Y Sheinin, J L Cohen-Pfeffer
OBJECTIVE: Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations. METHODS: An online survey was conducted with medical professionals from PKU clinics across the US from July to September 2015. Forty-four clinics participated in the survey and account for approximately half of PKU patients currently followed in clinics in the US (Berry et al...
January 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28132689/biallelic-mutations-in-dnajc12-cause-hyperphenylalaninemia-dystonia-and-intellectual-disability
#7
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A Gahl, J Wade Harper, Nenad Blau, Georg F Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28121442/investigation-of-fibril-forming-mechanisms-of-l-phenylalanine-and-l-tyrosine-microscopic-insight-toward-phenylketonuria-and-tyrosinemia-type-ii
#8
Debasis Banik, Sangita Kundu, Pavel Banerjee, Rupam Dutta, Nilmoni Sarkar
Phenylketonuria and tyrosinemia type II, the two metabolic disorders, are originated due to the complications in metabolism of phenylalanine (Phe) and tyrosine (Tyr), respectively. Several neurological injuries, involving microcephaly, mental retardation, epilepsy, motor disease, and skin problems etc., are the symptoms of these two diseases. It has been reported that toxic amyloid fibrils are formed at high concentrations of Phe and Tyr. Our study indicates that the fibril forming mechanisms of Phe and Tyr are completely different...
February 8, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28119182/construction-of-different-calibration-models-by-ftir-atr-spectra-and-their-application-in-screening-of-phenylketonuria
#9
Fengjuan Guo, Yuwei Zhu, Chao Chen, Shumei Wang, Shengwang Liang
OBJECTIVE: To construct different calibration models by using FTIR/ATR spectra and apply them for the screening of phenylketonuria for the newborns. METHOD: 69 dried blood spots samples were collected, of which the concentrations of phenylalanine (Phe) and tyrosine (Tyr) were determined by tandem mass spectrometry method. The FTIR/ATR method was used to collect the spectra of the samples. After various pretreatments with the original spectra, such as smoothing, derivative, vector normalization, Concave rubberband correction, the new spectra were fed into different methods to construct calibration models for the Phe concentrations of the samples...
January 10, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28111827/glycomacropeptide-in-children-with-phenylketonuria-does-its-phenylalanine-content-affect-blood-phenylalanine-control
#10
A Daly, S Evans, S Chahal, S Santra, A MacDonald
BACKGROUND: In phenylketonuria (PKU), there are no data available for children with respect to evaluating casein glycomacropeptide (CGMP) as an alternative to phenylalanine-free protein substitutes [Phe-free L-amino acid (AA)]. CGMP contains a residual amount of phenylalanine, which may alter blood phenylalanine control. METHODS: In a prospective 6-month pilot study, we investigated the effect on blood phenylalanine control of CGMP-amino acid (CGMP-AA) protein substitute in 22 PKU subjects (13 boys, nine girls), median age (range) 11 years (6-16 years)...
January 22, 2017: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://www.readbyqxmd.com/read/28080075/cognitive-outcomes-in-early-treated-adults-with-phenylketonuria-pku-a-comprehensive-picture-across-domains
#11
Liana Palermo, Tarekegn Geberhiwot, Anita MacDonald, Ellie Limback, S Kate Hall, Cristina Romani
OBJECTIVE: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature...
January 12, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28071012/phenylketonuria-is-not-a-risk-factor-for-changes-of-inflammation-status-as-assessed-by-interleukin-6-and-interleukin-8-concentrations
#12
Renata Mozrzymas, Monika Duś-Żuchowska, Łukasz Kałużny, Ewa Wenska-Chyży, Jarosław Walkowiak
BACKGROUND: High oxidative stress and a reduced potential for free radical scavenging in phenylketonuria (PKU) patients, a phenomenon confirmed in a few studies, may lead to systemic chronic inflammation. The aim of this study was to compare the inflammation status, as assessed by interleukin 6 and interleukin 8 concentrations, in patients with PKU and in healthy controls. METHODS: Twenty patients with classical PKU, aged 18-34 years and under dietary control, were enrolled in the study...
April 2016: Acta Scientiarum Polonorum. Technologia Alimentaria
https://www.readbyqxmd.com/read/28053173/the-indicator-amino-acid-oxidation-method-with-the-use-of-l-1-13c-leucine-suggests-a-higher-than-currently-recommended-protein-requirement-in-children-with-phenylketonuria
#13
Abrar Turki, Keiko Ueda, Barbara Cheng, Alette Giezen, Ramona Salvarinova, Sylvia Stockler-Ipsiroglu, Rajavel Elango
BACKGROUND: Phenylketonuria is characterized by mutations in the Phe hydroxylase gene that leads to the accumulation of Phe in plasma and the brain. The standard of care for phenylketonuria is nutritional management with dietary restriction of Phe and the provision of sufficient protein and energy for growth and health maintenance. The protein requirement in children with phenylketonuria is empirically determined based upon phenylketonuria nutritional guidelines that are adjusted individually in response to biochemical markers and growth...
February 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28027971/host-conditioning-and-rejection-monitoring-in-hepatocyte-transplantation-in-humans
#14
Kyle A Soltys, Kentaro Setoyama, Edgar N Tafaleng, Alejandro Soto Gutiérrez, Jason Fong, Ken Fukumitsu, Taichiro Nishikawa, Masaki Nagaya, Rachel Sada, Kimberly Haberman, Roberto Gramignoli, Kenneth Dorko, Veysel Tahan, Alexandra Dreyzin, Kevin Baskin, John J Crowley, Mubina A Quader, Melvin Deutsch, Chethan Ashokkumar, Benjamin L Shneider, Robert H Squires, Sarangarajan Ranganathan, Miguel Reyes-Mugica, Steven F Dobrowolski, George Mazariegos, Rajavel Elango, Donna B Stolz, Stephen C Strom, Gerard Vockley, Jayanta Roy-Chowdhury, Marilia Cascalho, Chandan Guha, Rakesh Sindhi, Jeffrey L Platt, Ira J Fox
BACKGROUND & AIMS: Hepatocyte transplantation partially corrects genetic disorders and has been associated anecdotally with reversal of acute liver failure. Monitoring for graft function and rejection has been difficult, and has contributed to limited graft survival. Here we aimed to use preparative liver-directed radiation therapy, and continuous monitoring for possible rejection in an attempt to overcome these limitations. METHODS: Preparative hepatic irradiation was examined in non-human primates as a strategy to improve engraftment of donor hepatocytes, and was then applied in human subjects...
December 24, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/28027068/is-propofol-safe-in-patients-with-phenylketonuria
#15
Vivek Rayadurg, Akshay Uttarwar, Rohini Surve
No abstract text is available yet for this article.
December 23, 2016: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/28010791/50-years-ago-in-the-journal-of-pediatrics-conference-on-treatment-of-phenylketonuria
#16
Diane B Paul, Lainie Friedman Ross
No abstract text is available yet for this article.
January 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/27971731/cost-effectiveness-analysis-of-restricted-protein-diet-in-patients-with-phenylketonuria-in-the-czech-republic
#17
T Mlcoch, M Sevec, K Lamblova, M Mazalova, T Dolezal
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27957302/challenges-of-implementation-of-the-national-phenylketonuria-screening-program-in-iran-a-qualitative-study
#18
Alireza Heidari, Mohammad Arab, Koorosh Etemad, Behzad Damari, Mohammad Javad Kabir
INTRODUCTION: Newborn screening (NBS) is a public health measure aimed at identification of early cases, management of afflicted infants, and making efforts to reduce the morbidity and mortality among newborns. All countries may face challenges in implementation of screening programs. The present study aimed to determine the challenges of implementation of the National Phenylketonuria (PKU) Screening Program in Iran. METHODS: In this qualitative study, 38 health policymakers, managers, and PKU experts in Iran were purposively selected as the respondents in 2015...
October 2016: Electronic Physician
https://www.readbyqxmd.com/read/27956861/biochemical-evaluation-of-phenylalanine-ammonia-lyase-from-endemic-plant-cyathobasis-fruticulosa-bunge-aellen-for-the-dietary-treatment-of-phenylketonuria
#19
Seda Şirin, Selcen Babaoğlu Aydaş, Belma Aslım
Enzyme substitution therapy with the phenylalanine ammonia lyase (PAL) is a new approach to the treatment of patients with phenylketonuria (PKU). This enzyme is responsible for the conversion of phenylalanine to trans-cinnamic acid. We assessed the PAL enzyme of the endemic plant Cyathobasis fruticulosa (Bunge) Aellen. for its possible role in the dietary treatment of PKU. The enzyme was found to have a high activity of (64.9±0.1) U/mg, with the optimum pH, temperature and buffer (Tris-HCl and l-phenylalanine) concentration levels of pH=8...
September 2016: Food Technology and Biotechnology
https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#20
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
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