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https://www.readbyqxmd.com/read/28820737/when-one-disease-is-not-enough-succinyl-coa-3-oxoacid-coenzyme-a-transferase-scot-deficiency-due-to-a-novel-mutation-in-oxct1-in-an-infant-with-known-phenylketonuria
#1
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch
A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. The acidosis with only slightly abnormal glucose, normal lactate levels and pronounced ketonuria suggested a defect in ketone body utilization...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28782989/longitudinal-modelling-of-the-exposure-of-young-uk-patients-with-pku-to-acesulfame-k-and-sucralose
#2
J Aaron O'Sullivan, Sandrine Pigat, Cian O'Mahony, Michael J Gibney, Aideen I McKevitt
Artificial sweeteners are used in protein substitutes intended for the dietary management of inborn errors of metabolism (Phenylketonuria, PKU) to improve the variety of medical foods available to patients and ensure dietary adherence to the prescribed course of dietary management. These patients can be exposed to artificial sweeteners from the combination of free and prescribed foods. Young children have a higher risk of exceeding acceptable daily intakes (ADI) for additives than adults due to higher food intakes per kg body weight...
August 7, 2017: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
https://www.readbyqxmd.com/read/28776207/long-term-follow-up-of-cognition-and-mental-health-in-adult-phenylketonuria-a-pku-cobeso-study
#3
Rianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, Jaap J van der Meere, Annet M Bosch, Carla E M Hollak, M Estela Rubio-Gozalbo, Martijn C G J Brouwers, Floris C Hofstede, Maaike C de Vries, Mirian C H Janssen, Ans T van der Ploeg, Janneke G Langendonk, Stephan C J Huijbregts
Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic control and its history. For the present study executive functioning (EF) was assessed in 21 PKU patients during childhood (T1, mean age 10.4 years, SD = 2.0) and again in adulthood (T2, mean age 25.8 years, SD = 2.3). At T2 additional assessments of EF in daily life and mental health were performed. Childhood (i.e. 0-12 years) blood phenylalanine was significantly related to cognitive flexibility, executive motor control, EF in daily life and mental health in adulthood (i...
August 3, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28768147/production-of-human-recombinant-phenylalanine-hydroxylase-in-lactobacillus-plantarum-for-gastrointestinal-delivery
#4
Aura María Ramírez, Alexander Rodriguez-López, Andrea Ardila, Laura Beltran, Camilo Andres Patarroyo, Adelina Del Pilar Melendez, Oscar Fernando Sánchez, Carlos Javier Alméciga-Díaz
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a defective phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of l-phenylalanine (l-Phe) to l-tyrosine (l-Tyr) in presence of the cofactor tetrahydrobiopterin (BH4). Defective PAH causes accumulation of phenylalanine, which has neurotoxic effects and leads to dermatological, behavioral, and neurocognitive problems. Treatments for this disease consist in life-long diets that are hard for patients to keep, or supplementation with BH4...
July 30, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28739202/the-relationship-between-dietary-intake-growth-and-body-composition-in-phenylketonuria
#5
Maureen Evans, Helen Truby, Avihu Boneh
AIM: Phenylketonuria (PKU) is an inborn error of protein metabolism that results from perturbation in phenylalanine hydroxylase activity leading to elevated blood levels of phenylalanine (phe). We aimed to explore the relationships between dietary patterns (total-protein, natural-protein, amino-acid formula), and the ratio of protein to energy intake with growth and body composition. METHOD: Longitudinal prospective data (1-6 measurements) of growth, dietary intake and body composition in patients treated with phe-restricted diet only (D-PKU; n=32), and tetrahydrobiopterin (BH4)±phe-restricted diet (BH4-PKU; n=5) were collected over a two-year period...
July 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28724394/development-of-newborn-screening-connect-nbs-connect-a-self-reported-patient-registry-and-its-role-in-improvement-of-care-for-patients-with-inherited-metabolic-disorders
#6
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H Singh
BACKGROUND: Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments...
July 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28706611/a-novel-variant-in-the-pah-gene-causing-phenylketonuria-in-an-iranian-pedigree
#7
Elaheh Alavinejad, Seyede Zahra Sajedi, Masoumeh Razipour, Mona Entezam, Neda Mohajer, Aria Setoodeh, Saeed Talebi, Mohammad Keramatipour
BACKGROUND: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedigree with phenylketonuria was introduced. METHODS: A consanguineous family with a 10-year old affected girl was referred for genetic analysis. Mutation screening of all exons and exon-intron boundaries was performed by Sanger sequencing, and mini haplotype analysis was carried out by genotyping of Short Tandem Repeat (STR) and Variable Number Tandem Repeat (VNTR) alleles...
July 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28697448/in-silico-analyses-of-the-effects-of-a-point-mutation-and-a-pharmacological-chaperone-on-the-thermal-fluctuation-of-phenylalanine-hydroxylase
#8
Daichi Hayakawa, Noriyuki Yamaotsu, Izumi Nakagome, Shin-Ichiro Ozawa, Tomoki Yoshida, Shuichi Hirono
Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism due to mutations in phenylalanine hydroxylase (PAH). Recently, small compounds, known as pharmacological chaperones (PhCs), have been identified that restore the enzymatic activity of mutant PAHs. Understanding the mechanism of the reduction in enzymatic activity due to a point mutation in PAH and its restoration by PhC binding is important for the design of more effective PhC drugs. Thermal fluctuations of an enzyme can alter its activity...
September 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/28682891/influence-of-phenylketonuria-s-diet-on-dimethylated-arginines-and-methylation-cycle
#9
Fernando Andrade, Olalla López-Suárez, Marta Llarena, María L Couce, Luis Aldámiz-Echevarría
Phenylketonuria's (PKU) treatment based on low natural protein diet may affect homocysteine (Hcys) metabolic pathway. Hcys alteration may be related to the methylation of arginine to asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA), which both modify nitric oxide production. The aim of this work is to evaluate the status of Hcys formation methylation cycle and ADMA and SDMA levels in patients with PKU in order to establish a potential relationship.Forty-two early diagnosed PKU patients under dietary treatment and good adherence to their diets were enrolled in this cross-sectional study...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28679641/early-screening-for-tetrahydrobiopterin-responsiveness-in-phenylketonuria
#10
Francesco Porta, Marco Spada, Alberto Ponzone
Since 2007, synthetic tetrahydrobiopterin (BH4) has been approved as a therapeutic option in BH4-responsive phenylketonuria (PKU) and since 2015 extended to infants younger than 4 years in Europe. The current definition of BH4 responsiveness relies on the observation of a 20% to 30% blood phenylalanine (Phe) decrease after BH4 administration, under nonstandardized conditions. By this definition, however, patients with the same genotype or even the same patients were alternatively reported as responsive or nonresponsive to the cofactor...
August 2017: Pediatrics
https://www.readbyqxmd.com/read/28676969/genetic-study-of-the-pah-locus-in-the-iranian-population-familial-gene-mutations-and-minihaplotypes
#11
Masoumeh Razipour, Elaheh Alavinejad, Seyede Zahra Sajedi, Saeed Talebi, Mona Entezam, Neda Mohajer, Golnaz-Ensieh Kazemi-Sefat, Jalal Gharesouran, Aria Setoodeh, Seyyed Mojtaba Mohaddes Ardebili, Mohammad Keramatipour
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PAH have been detected to date. Up to now, there have been no reports on the minihaplotype (VNTR/STR) analysis of PAH locus in the Iranian population. The aims of the present study were to determine PAH mutations and minihaplotypes in Iranian families with PAH deficiency and to investigate the correlation between them...
July 4, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28656971/dietary-patterns-cost-and-compliance-with-low-protein-diet-of-phenylketonuria-and-other-inherited-metabolic-diseases
#12
T Mlčoch, R Puda, P Ješina, M Lhotáková, Š Štěrbová, T Doležal
BACKGROUND/OBJECTIVES: Phenylketonuria (PKU) and several other inherited metabolic diseases (IMD) require a lifelong low-protein diet (LPD), otherwise they lead to many health complications. LPDs, however, carry a significant economic burden for patients and their families. The objective of this study was to explore the costs of low-protein foods (LPFs) necessary for LPD as well as dietary patterns and compliance towards an LPD. SUBJECTS/METHODS: A detailed questionnaire was created in cooperation with National Association of PKU and other IMD (NSPKU), and consequently sent to all NSPKU members treated with an LPD (n=303)...
June 28, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28653649/functional-and-structural-characterisation-of-5-missense-mutations-of-the-phenylalanine-hydroxylase
#13
Martina Pecimonova, Emil Polak, Frantisek Csicsay, Kamila Reblova, Maja Stojiljkovic, Zdenko Levarski, Ludovit Skultety, Ludevit Kadasi, Andrea Soltysova
Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are a group of genetic disorders predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene. To date, more than 950 variants have been identified, however the pathogenic mechanism of many variants remains unknown. In this study, in silico prediction and in vitro prokaryotic and eukaryotic expression systems were used to functionally characterize five PAH missense variants (p.F233I, p.R270I, p.F331S, p.S350Y, and p.L358F) previously identified in Slovak and Czech patients...
June 27, 2017: General Physiology and Biophysics
https://www.readbyqxmd.com/read/28645531/new-protein-structures-provide-an-updated-understanding-of-phenylketonuria
#14
REVIEW
Eileen K Jaffe
Phenylketonuria (PKU) and less severe hyperphenylalaninemia (HPA) constitute the most common inborn error of amino acid metabolism, and is most often caused by defects in phenylalanine hydroxylase (PAH) function resulting in accumulation of Phe to neurotoxic levels. Despite the success of dietary intervention in preventing permanent neurological damage, individuals living with PKU clamor for additional non-dietary therapies. The bulk of disease-associated mutations are PAH missense variants, which occur throughout the entire 452 amino acid human PAH protein...
August 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28632427/speed-of-processing-and-executive-functions-in-adults-with-phenylketonuria-quick-in-finding-the-word-but-not-the-ladybird
#15
Cristina Romani, Anita MacDonald, Sara De Felice, Liana Palermo
A reduction in processing speed is widely reported in phenylketonuria (PKU), possibly due to white matter pathology. We investigated possible deficits and their relationships with executive functions in a sample of 37 early-treated adults with PKU (AwPKUs). AwPKUs were not characterized by a generalized speed deficit, but instead their performance could be explained by two more specific impairments: (a) a deficit in the allocation of visuo-spatial attention that reduced speed in visual search tasks, in some reading conditions and visuo-motor coordination tasks; and (b) a more conservative decision mechanism that slowed down returning an answer across domains...
June 20, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28624210/low-dose-gene-therapy-for-murine-pku-using-episomal-naked-dna-vectors-expressing-pah-from-its-endogenous-liver-promoter
#16
Hiu Man Grisch-Chan, Andrea Schlegel, Tanja Scherer, Gabriella Allegri, Raphael Heidelberger, Panagiota Tsikrika, Marco Schmeer, Martin Schleef, Cary O Harding, Johannes Häberle, Beat Thöny
Limited duration of transgene expression, insertional mutagenesis, and size limitations for transgene cassettes pose challenges and risk factors for many gene therapy vectors. Here, we report on physiological expression of liver phenylalanine hydroxylase (PAH) by delivery of naked DNA/minicircle (MC)-based vectors for correction of homozygous enu2 mice, a model of human phenylketonuria (PKU). Because MC vectors lack a defined size limit, we constructed a MC vector expressing a codon-optimized murine Pah cDNA that includes a truncated intron and is under the transcriptional control of a 3...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28613845/spatial-and-temporal-trends-in-global-emissions-of-nitrogen-oxides-from-1960-to-2014
#17
Tianbo Huang, Xi Zhu, Qirui Zhong, Xiao Yun, Wenjun Meng, Bengang Li, Jianmin Ma, Eddy Y Zeng, Shu Tao
The quantification of nitrogen oxide (NOx) emissions is critical for air quality modeling. Based on updated fuel consumption and emission factor databases, a global emission inventory was compiled with high spatial (0.1° × 0.1°), temporal (monthly), and source (87 sources) resolutions for the period 1960 to 2014. The monthly emission data have been uploaded online ( http://inventory.pku.edu.cn ), along with a number of other air pollutant and greenhouse gas data for free download. Differences in source profiles, not global total quantities, between our results and those reported previously were found...
June 29, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28604955/-characteristics-of-phenylalanine-hydroxylase-gene-mutations-among-patients-with-phenylketonuria-from-linyi-region-of-shandong-province
#18
Huafeng Li, Yongli Li, Li Zhang
OBJECTIVE: To explore the characteristics of (PAH) gene mutations among patients with phenylketonuria (PKU) from Linyi area of Shandong Province. METHODS: For 51 children affected with PKU and their parents, the 13 exons and their flanking intronic sequences of the PAH gene were directly sequenced with Sanger method. RESULTS: PAH gene mutations were detected in all of the 102 alleles of the patients, which included 31 types of mutations. Common mutations included R243Q (17/102, 16...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28593914/improved-metabolic-control-in-tetrahydrobiopterin-bh4-responsive-phenylketonuria-with-sapropterin-administered-in-two-divided-doses-vs-a-single-daily-dose
#19
Deniz Kör, Berna Şeker Yılmaz, Fatma Derya Bulut, Serdar Ceylaner, Neslihan Önenli Mungan
BACKGROUND: Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in the diets of patients with PKU. BH4 is the co-factor of the enzyme phenylalanine hydroxylase (PAH) and improves PAH activity and, thus, Phe tolerance in the diet. A limited number of published studies suggest a pharmacodynamic profile of BH4 more suitable to be administered in divided daily doses. METHODS: After a 72-h BH4 loading test, sapropterin was initiated in 50 responsive patients...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28560701/nano-calorimetry-based-point-of-care-biosensor-for-metabolic-disease-management
#20
Evan Kazura, Brad R Lubbers, Elliott Dawson, John A Phillips, Franz Baudenbacher
Point of care (POC) diagnostics represents one of the fastest growing health care technology segments. Developments in microfabrication have led to the development of highly-sensitive nanocalorimeters ideal for directly measuring heat generated in POC biosensors. Here we present a novel nano-calorimeter-based biosensor design with differential sensing to eliminate common mode noise and capillary microfluidic channels for sample delivery to the thermoelectric sensor. The calorimeter has a resolution of 1.4 ± 0...
September 2017: Biomedical Microdevices
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