keyword
MENU ▼
Read by QxMD icon Read
search

Phenylketonuria

keyword
https://www.readbyqxmd.com/read/29777816/aptamer-based-assay-for-monitoring-genetic-disorder-phenylketonuria-pku
#1
Mohammad Hasanzadeh, Amir Zargami, Hossein Navay Baghban, Ahad Mokhtarzadeh, Nasrin Shadjou, Soltanali Mahboob
The genetic disorder phenylketonuria (PKU) is the inability to metabolize phenylalanine because of a lack of the enzyme phenylalanine hydroxylase. Phenylalanine is used to biochemically form proteins, coded for by DNA. The development of an apta-assay for detection of l-Phenylalanine is presented in this work. A highly specific DNA-aptamer, selected to l-Phenylalanine was immobilized onto a gold nanostructure and electrochemical measurements were performed in a solution containing the phosphate buffer solution with physiological pH...
May 16, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29772389/hippocampal-microglia-modifications-in-c57bl-6-pah-enu2-and-btbr-pah-enu2-phenylketonuria-pku-mice-depend-on-the-genetic-background-irrespective-of-disturbed-sleep-patterns
#2
Els van der Goot, Vibeke M Bruinenberg, Femke M Hormann, Ulrich L M Eisel, Francjan J van Spronsen, Eddy A Van der Zee
Toxic levels of phenylalanine in blood and brain is a characteristic of (untreated) phenylketonuria (PKU), leading to cognitive deficits in PKU mice. In addition, our recent findings showed that PKU mice (as well as PKU patients) have a disturbed sleep/wake cycle. As a consequence, sleep loss may contribute to cognitive deficits in PKU. Sleep loss has been linked to increased activation of microglia in the hippocampus. In this study, we set out to examine morphological features of the microglia population in the hippocampus of the mouse PKU model, using both the C57Bl/6 and the BTBR strain and their wild-type controls (age 5...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29768223/nano-biosensor-based-on-reduced-graphene-oxide-and-gold-nanoparticles-for-detection-of-phenylketonuria-associated-dna-mutation
#3
Seyed Morteza Seifati, Navid Nasirizadeh, Mostafa Azimzadeh
Phenylketonuria (PKU)-associated DNA mutation in newborn children can be harmful to his health and early detection is the best way to inhibit consequences. A novel electrochemical nano-biosensor was developed for PKU detection, based on signal amplification using nanomaterials, e.g. gold nanoparticles (AuNPs) decorated on the reduced graphene oxide sheet on the screen-printed carbon electrode. The fabrication steps were checked by field emission scanning electron microscope imaging as well as cyclic voltammetry analysis...
June 2018: IET Nanobiotechnology
https://www.readbyqxmd.com/read/29749107/mutation-analysis-of-the-pah-gene-in-phenylketonuria-patients-from-rio-de-janeiro-southeast-brazil
#4
Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian D M Carvalho, Lúcia Lacerda, Márcia G Ribeiro
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula...
May 10, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29740797/resolution-mechanism-and-characterization-of-an-ammonium-chloride-tolerant-high-thermostable-and-salt-tolerant-phenylalanine-dehydrogenase-from-bacillus-halodurans
#5
Wei Jiang, Ya-Li Wang, Bai-Shan Fang
As phenylalanine dehydrogenase (PheDH) plays an important role in the synthesis of chiral drug intermediates and detection of phenylketonuria, it is significant to obtain a PheDH with specific and high activity. Here, a PheDH gene, pdh, encoding a novel BhPheDH with 61.0% similarity to the known PheDH from Microbacterium sp., was obtained. The BhPheDH showed optimal activity at 60 °C and pH 7.0, and it showed better stability in hot environment (40-70 °C) than the PheDH from Nocardia sp. And its activity and thermostability could be significantly increased by sodium salt...
May 9, 2018: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/29731766/expanded-newborn-screening-for-inborn-errors-of-metabolism-and-genetic-characteristics-in-a-chinese-population
#6
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29684050/intronic-pah-gene-mutations-cause-a-splicing-defect-by-a-novel-mechanism-involving-u1snrnp-binding-downstream-of-the-5-splice-site
#7
Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage S Andresen, Lourdes R Desviat
Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disruption of exonic splicing regulatory elements. In this study, we report a novel intron 11 regulatory element, which is involved in exon 11 splicing, as revealed by the investigated pathogenic effect of variants c...
April 23, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29675588/parenting-a-child-with-phenylketonuria-an-investigation-into-the-factors-that-contribute-to-parental-distress
#8
Olivia Ambler, Emma Medford, Dougal J Hare
Phenylketonuria (PKU) is an inherited metabolic condition that can lead to the onset of intellectual disabilities if not strictly managed through a low-protein diet. Parents are responsible for supervising their child's treatment for PKU, which may impact on their experience of distress. This cross-sectional study aimed to identify the factors that contribute to distress in parents who care for a child with PKU, distinct from parents in the general population. Thirty-eight parents of children and adolescents with PKU and 32 parents in the general population completed the questionnaires measuring parental psychological resilience, child behaviour problems, perceived social support and distress...
April 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29661557/a-new-therapy-prevents-intellectual-disability-in-mouse-with-phenylketonuria
#9
Tiziana Pascucci, Luigia Rossi, Marco Colamartino, Claudia Gabucci, Claudia Carducci, Alessandro Valzania, Valeria Sasso, Noemi Bigini, Francesca Pierigè, Maria Teresa Viscomi, Rossella Ventura, Simona Cabib, Mauro Magnani, Stefano Puglisi-Allegra, Vincenzo Leuzzi
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partially prevented by an early and rigorous limitation of phenylalanine (Phe) intake. Enzyme substitution therapy with recombinant Anabaena variabilis Phe Ammonia Lyase (rAvPAL) proved to be effective in reducing blood Phe levels in preclinical and clinical studies of adults with PKU. Aims of present study were: a) to gather proofs of clinical efficacy of rAvPAL treatment in preventing neurological impairment in an early treated murine model of PKU; b) to test the advantages of an alternative delivering system for rAvPAL such as autologous erythrocytes...
April 7, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29653233/three-novel-variants-p-glu178lys-p-val245met-p-ser250phe-of-the-phenylalanine-hydroxylase-pah-gene-impair-protein-expression-and-function-in-vitro
#10
Yanan Zong, Ning Liu, Shanshan Ma, Ying Bai, Fangxia Guan, Xiangdong Kong
Phenylketonuria (PKU) is the most common inherited metabolic disease, an autosomal recessive disorder affecting >10,000 newborns each year globally. It can be caused by over 1000 different naturally occurring mutations in the phenylalanine hydroxylase (PAH) gene. We analyzed three novel naturally occurring PAH gene variants: p.Glu178Lys (c.532G>A), p.Val245Met (c.733G>A) and p.Ser250Phe (c.749C>T). The mutant effect on the PAH enzyme structure and function was predicted by bioinformatics software...
April 10, 2018: Gene
https://www.readbyqxmd.com/read/29651832/psychological-wellbeing-in-parents-of-children-with-phenylketonuria-and-association-with-treatment-adherence
#11
Lidia Borghi, Elisabetta Salvatici, Giuseppe Banderali, Enrica Riva, Marcello Giovannini, Elena Vegni
BACKGROUND: Phenylketonuria (PKU) is a rare metabolic disorder that leads to severe neurological abnormalities unless early treated with a strict phenylalanine (Phe)-restricted diet. The parents' involvement in PKU management is crucial and could lead to psychological distress; however, few studies have explored the parents' psychological wellbeing. The study aimed to: 1) evaluate the presence of psychological distress and impaired quality of life among parents of children with PKU, assessing the load of the diagnosis and the load of the treatment management; 2) explore the associations with their children's blood-Phe levels...
April 12, 2018: Minerva Pediatrica
https://www.readbyqxmd.com/read/29648495/the-s-oxidation-referee-1-minor-comment-1-of-s-carboxymethyl-l-cysteine-in-hepatic-cytosolic-fractions-from-btbr-and-phenylketonuria-enu1-and-enu2-mice-referee-1minor-comment-2
#12
Glyn B Steventon, Stephen C Mitchell
1. Mice that were heterozygous dominant for the enu1 and enu2 mutation in PAH resulted in hepatic PAH assays for SCMC that had significantly increased calculated Km (wt/enu1, 1.84-2.12 fold increase and wt/enu2 a 2.75 fold increase in PAH assays). The heterozygous dominant phenotypes showed a significantly reduced catalytic turnover of SCMC (wt/enu1, 6.11 fold decrease and wt/enu2 an 11.25 fold decrease in calculated Vmax ). Finally, these phenotypes also had a significantly reduced clearance, CLE (wt/enu1, 13...
April 12, 2018: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/29628378/pegvaliase-for-the-treatment-of-phenylketonuria-a-pivotal-double-blind-randomized-discontinuation-phase-3-clinical-trial
#13
Cary O Harding, R Stephen Amato, Mary Stuy, Nicola Longo, Barbara K Burton, John Posner, Haoling H Weng, Markus Merilainen, Zhonghua Gu, Joy Jiang, Jerry Vockley
INTRODUCTION: Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This manuscript describes results of a randomized discontinuation trial (RDT) designed to evaluate the effects of pegvaliase treatment on blood phenylalanine (Phe) and neuropsychiatric outcomes in adults with PKU. METHODS: PRISM-2 is a 4-part, Phase 3 study that enrolled adults with PKU receiving pegvaliase treatment (initiated in a prior Phase 2 or Phase 3 study)...
March 18, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29623884/tryptophan-metabolism-utility-of-plasmatic-assay-in-phenylketonuria-a-study-in-6-adult-patients
#14
Lysiane Boulet, Gérard Besson, Patrice Faure, Véronique Ducros, Christelle Corne
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). If untreated, the disease leads to an important intellectual disability (IQ <50). Although many facts are common between phenylalanine (Phe) and tryptophan (Trp) metabolism, little is known about Trp metabolism modification in PKU. Our aim was to evaluate the modifications of Trp metabolism in a phenylketonuric population. A monocentric study was conducted between October 2016 and March 2017...
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29616438/a-novel-compound-primed-multiplex-arms-pcr-cpmap-for-simultaneous-detection-of-common-pah-gene-mutations
#15
Maryam Shaykholeslam Esfahani, Ehsan Shaykholeslam Esfahani, Sadeq Vallian
In this study, we introduce a novel compound-primed multiplex ARMS PCR (CPMAP) for simultaneous detection of common PAH gene mutations. This approach was used successfully for simultaneous identification of six most common PAH gene mutations in 137 phenylketonuria patients in the Iranian population. A total of six normal and six mutant allele-specific primers and 4 common primers containing a tag sequence of 12 base pair at the 5'-end were designed and used in two separate optimized multiplex ARMS reactions followed by hot-start PCR...
April 3, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29615849/targeting-mglu5-metabotropic-glutamate-receptors-in-the-treatment-of-cognitive-dysfunction-in-a-mouse-model-of-phenylketonuria
#16
Francesca Nardecchia, Rosamaria Orlando, Luisa Iacovelli, Marco Colamartino, Elena Fiori, Vincenzo Leuzzi, Sonia Piccinin, Robert Nistico, Stefano Puglisi-Allegra, Luisa Di Menna, Giuseppe Battaglia, Ferdinando Nicoletti, Tiziana Pascucci
We studied group-I metabotropic glutamate (mGlu) receptors in Pahenu2 (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID). Male ENU2 mice showed increased mGlu5 receptor protein levels in the hippocampus and corpus striatum (but not in the prefrontal cortex) whereas the transcript of the mGlu5 receptor was unchanged. No changes in mGlu1 receptor mRNA and protein levels were found in any of the three brain regions of ENU2 mice...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29596327/disruption-of-ptps-gene-causing-pale-body-color-and-lethal-phenotype-in-the-silkworm-bombyx-mori
#17
Xiaoling Tong, Pingfeng Liang, Songyuan Wu, Yuanhao Li, Liang Qiao, Hai Hu, Zhonghuai Xiang, Cheng Lu, Fangyin Dai
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase ( PAH ) gene or by defects in the tetrahydrobiopterin (BH4) synthesis pathway. Here, by positional cloning, we report that the 6-pyruvoyl-tetrahydropterin synthase ( PTPS ) gene, encoding a key enzyme of BH4 biosynthesis, is responsible for the alc (albino C) mutation that displays pale body color, head shaking, and eventually lethality after the first molting in silkworm. Compared to wild type, the alc mutant produced more substrates (phenylalanine (Phe) and tyrosine (Tyr)) and generated less DOPA and dopamine...
March 29, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29579554/clinical-and-electrophysiological-findings-in-patients-with-phenylketonuria-and-epilepsy-reflex-features
#18
Senay Yildiz Celik, Nerses Bebek, Candan Gurses, Betul Baykan, Aysen Gokyigit
OBJECTIVE: Phenylketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy. METHODS: Three patients with PKU and epilepsy were recognized to have reflex epileptic features, and there were ten consecutive adult patients with PKU and epilepsy who were evaluated retrospectively...
March 23, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29576183/50-years-ago-in-the-journal-of-pediatrics-variability-in-the-manifestations-of-phenylketonuria-transient-hyperphenylalaninemia
#19
Lainie Friedman Ross, Diane B Paul
No abstract text is available yet for this article.
April 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29514280/secondary-bh4-deficiency-links-protein-homeostasis-to-regulation-of-phenylalanine-metabolism
#20
Anna Eichinger, Marta K Danecka, Tamara Möglich, Julia Borsch, Mathias Woidy, Lars Büttner, Ania C Muntau, Søren W Gersting
Metabolic control of phenylalanine concentrations in body fluids is essential for cognitive development and executive function. The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase (PAH), to the PAH cofactor tetrahydrobiopterin (BH4). Physiologically, phenylalanine availability is governed by nutrient intake, whereas liver BH4 is kept at constant level. In phenylketonuria, PAH deficiency leads to elevated blood phenylalanine and is often caused by PAH protein misfolding with loss of function...
May 15, 2018: Human Molecular Genetics
keyword
keyword
44356
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"