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    Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study.
    Nutr Metab (Lond) 2017 17;14:57. Epub 2017 Aug 17.
    Department of Experimental Pharmacology, Medical University of Bialystok, Bialystok, Poland.
    Background: The aim of the study was to assess both patients' and their parents' knowledge of phenylketonuria (PKU) treatment and compliance with PKU diet.

    Methods: The study included 173 PKU patients aged 10-19 and 110 parents of PKU children who were enrolled in the study on the basis of questionnaire data. The study also included 45 patients aged ≥20. Read More

    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.
    J Pediatr Endocrinol Metab 2017 Aug 18. Epub 2017 Aug 18.
    .
    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. Read More

    BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
    J Pediatr (Rio J) 2017 Aug 8. Epub 2017 Aug 8.
    Universidade Federal de Minas Gerais (UFMG), Department of Pediatrics, Belo Horizonte, MG, Brazil.
    Objectives: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG).

    Methods: Descriptive study of patients with BH4 deficiency identified by the NSPMG.

    Results: The prevalence found was 2. Read More

    Longitudinal modelling of the exposure of young UK patients with PKU to Acesulfame K and Sucralose.
    Food Addit Contam Part A Chem Anal Control Expo Risk Assess 2017 Aug 7. Epub 2017 Aug 7.
    a UCD Institute of Food and Health, School of Agriculture and Food Science , University College Dublin , Belfield, Dublin 4, Republic of Ireland .
    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. Read More

    Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.
    Behav Genet 2017 Aug 3. Epub 2017 Aug 3.
    Department of Clinical Child and Adolescent Studies & Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands.
    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. Read More

    Production of human recombinant phenylalanine hydroxylase in Lactobacillus plantarum for gastrointestinal delivery.
    Eur J Pharm Sci 2017 Jul 30;109:48-55. Epub 2017 Jul 30.
    Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana, Bogotá, Colombia. Electronic address:
    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. Read More

    Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.
    J Clin Med 2017 Jul 19;6(7). Epub 2017 Jul 19.
    School of Pharmacy, Liverpool John Moore University, Byrom Street, Liverpool L3 3AF, UK.
    Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify reactive oxygen species (ROS). The ROS can then go unchallenged and are able to cause oxidative damage to cellular lipids, DNA and proteins, which will eventually result in cellular and organ dysfunction. Read More

    Multimode smartphone biosensing: the transmission, reflection, and intensity spectral (TRI)-analyzer.
    Lab Chip 2017 Jul 28. Epub 2017 Jul 28.
    Department of Bioengineering, Micro and Nano Technology Laboratory, University of Illinois at Urbana-Champaign, 208 N. Wright Street, Urbana, IL 61801, USA. and Department of Electrical and Computer Engineering, University of Illinois at Urbana-Champaign, USA.
    We demonstrate a smartphone-integrated handheld detection instrument capable of utilizing the internal rear-facing camera as a high-resolution spectrometer for measuring the colorimetric absorption spectrum, fluorescence emission spectrum, and resonant reflection spectrum from a microfluidic cartridge inserted into the measurement light path. Under user selection, the instrument gathers light from either the white "flash" LED of the smartphone or an integrated green laser diode to direct illumination into a liquid test sample or onto a photonic crystal biosensor. Light emerging from each type of assay is gathered via optical fiber and passed through a diffraction grating placed directly over the smartphone camera to generate spectra from the assay when an image is collected. Read More

    The relationship between dietary intake, growth and body composition in Phenylketonuria.
    Mol Genet Metab 2017 Jul 20. Epub 2017 Jul 20.
    Department of Metabolic Medicine, The Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia; Be Active Sleep Eat (BASE) Facility, Department of Nutrition and Dietetics, Monash University, Faculty of Medicine, Nursing and Health Sciences, Level 1, 264 Ferntree Gully Road Notting Hill, Melbourne, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Electronic address:
    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. Read More

    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.
    Orphanet J Rare Dis 2017 Jul 19;12(1):132. Epub 2017 Jul 19.
    Metabolic Genetics and Nutrition Program, Emory University, Atlanta, GA, USA.
    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. Read More

    Screening Mentally Retarded Children for Inborn Errors of Metabolism.
    J Nepal Health Res Counc 2017 Jan;15(35):20-25
    Department of Biochemistry, Kathmandu Medical College, Kathmandu, Nepal.
    Background: Most inborn errors of metabolism result in mental retardation and death due to accumulation of abnormal metabolites in the tissues. The presence of abnormal metabolites in the urine of mentally retarded individuals has been used worldwide for detection of inborn errors of metabolism. The purpose of the study is to determine the prevalence of inborn error of metabolism in mentally retarded children. Read More

    A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree.
    Avicenna J Med Biotechnol 2017 Jul-Sep;9(3):146-149
    Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    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. Read More

    In silico analyses of the effects of a point mutation and a pharmacological chaperone on the thermal fluctuation of phenylalanine hydroxylase.
    Biophys Chem 2017 Sep 30;228:47-54. Epub 2017 Jun 30.
    School of Pharmacy, Kitasato University, 5-9-1 Shirokane, Minato-ku, Tokyo 108-8641, Japan. Electronic address:
    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. Read More

    Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle.
    Medicine (Baltimore) 2017 Jul;96(27):e7392
    aUnit of Metabolism, BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER), Barakaldo bMetabolic Disorders Unit, Santiago de Compostela University Hospital, IDIS, CIBERER, Santiago de Compostela, Spain.
    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. Read More

    Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
    Pediatrics 2017 Aug 5;140(2). Epub 2017 Jul 5.
    Department of Pediatrics, University of Torino, Torino, Italy.
    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. Read More

    Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
    Metab Brain Dis 2017 Jul 4. Epub 2017 Jul 4.
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    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. Read More

    Carrier screening for single gene disorders.
    Semin Fetal Neonatal Med 2017 Jun 29. Epub 2017 Jun 29.
    Mayo Clinic, Rochester, MN, USA.
    Screening for genetic disorders began in 1963 with the initiation of newborn screening for phenylketonuria. Advances in molecular technology have made both newborn screening for newborns affected with serious disorders, and carrier screening of individuals at risk for offspring with genetic disorders, more complex and more widely available. Carrier screening today can be performed secondary to family history-based screening, ethnic-based screening, and expanded carrier screening (ECS). Read More

    Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria.
    Data Brief 2017 Aug 7;13:377-384. Epub 2017 Jun 7.
    Department of Nutritional Sciences, University of Wisconsin-Madison, WI, United States.
    This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low-phenylalanine diets in combination with amino acid medical foods and glycomacropeptide medical foods for 3 weeks each in a crossover design. The sample size of 30 subjects included 20 subjects with classical phenylketonuria and 10 with a milder or variant form of phenylketonuria. Results are presented for the Delis-Kaplan Executive Function System and the Cambridge Neuropsychological Test Automated Battery; the tests were administered at the end of each 3-week dietary treatment with amino acid medical foods and glycomacropeptide medical foods. Read More

    Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.
    Eur J Clin Nutr 2017 Jun 28. Epub 2017 Jun 28.
    Institute of Health Economics and Technology Assessment, Prague, Czech Republic.
    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. Read More

    Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
    Gen Physiol Biophys 2017 Jun 27. Epub 2017 Jun 27.
    Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia.
    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. Read More

    New protein structures provide an updated understanding of phenylketonuria.
    Mol Genet Metab 2017 Aug 15;121(4):289-296. Epub 2017 Jun 15.
    Fox Chase Cancer Center - Temple University Health System, 333 Cottman Ave, Philadelphia, PA 19111, USA. Electronic address:
    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. Read More

    Speed of processing and executive functions in adults with phenylketonuria: Quick in finding the word, but not the ladybird.
    Cogn Neuropsychol 2017 Jun 20:1-28. Epub 2017 Jun 20.
    a School of Life and Health Sciences , Aston University , Birmingham , UK.
    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. Read More

    Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter.
    Mol Ther Nucleic Acids 2017 Jun 20;7:339-349. Epub 2017 Apr 20.
    Division of Metabolism and Children's Research Centre (CRC), University Children's Hospital, 8032 Zurich, Switzerland; Zurich Center for Integrative Human Physiology (ZIHP) and Neuroscience Center Zurich (ZNZ), 8008 Zurich, Switzerland. Electronic address:
    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. Read More

    [Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Jun;34(3):361-364
    Genetic Laboratory, Women and Children's Health Care Hospital of Linyi, Linyi, Shandong 276014, China.
    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. Read More

    Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
    J Pediatr Endocrinol Metab 2017 Jul;30(7):713-718
    .
    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. Read More

    Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.
    Exp Ther Med 2017 May 2;13(5):1961-1968. Epub 2017 Mar 2.
    Hunan Province Technical Institute of Clinical Preventive and Treatment for Children's Inherited Metabolic Disorders, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, P.R. China.
    The aim of the present study was to conduct preliminary clinical screening and monitoring using a novel two-step derivatization process of urine in five categories of inherited metabolic disease (IMD). Urine samples (100 µl, containing 2.5 mmol/l creatinine) were taken from patients with IMDs. Read More

    Nano-Calorimetry based point of care biosensor for metabolic disease management.
    Biomed Microdevices 2017 Sep;19(3):50
    Department of Biomedical Engineering, Vanderbilt University, 5824 Stevenson Center, Nashville, TN, 37235, USA.
    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. Read More

    Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.
    Psychol Med 2017 May 29:1-12. Epub 2017 May 29.
    Department of Nuclear Medicine,Academic Medical Center,Amsterdam,The Netherlands.
    Background: Phenylketonuria (PKU), a genetic metabolic disorder that is characterized by the inability to convert phenylalanine to tyrosine, leads to severe intellectual disability and other cerebral complications if left untreated. Dietary treatment, initiated soon after birth, prevents most brain-related complications. A leading hypothesis postulates that a shortage of brain monoamines may be associated with neurocognitive deficits that are observable even in early-treated PKU. Read More

    Modification of infant hypothyroidism and phenylketonuria screening program using electronic tools.
    J Educ Health Promot 2017 19;6. Epub 2017 Apr 19.
    Department of Information Technology, Health Information Technology, Health Vice-Chancellery, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background: Congenital hypothyroidism and phenylketonuria (PKU) are the most common cause for preventable mental retardation in infants worldwide. Timely diagnosis and treatment of these disorders can have lasting effects on the mental development of newborns. However, there are several problems at different stages of screening programs that along with imposing heavy costs can reduce the precision of the screening, increasing the chance of undiagnosed cases which in turn can have damaging consequences for the society. Read More

    Amino Acid Medical Foods Provide a High Dietary Acid Load and Increase Urinary Excretion of Renal Net Acid, Calcium, and Magnesium Compared with Glycomacropeptide Medical Foods in Phenylketonuria.
    J Nutr Metab 2017 4;2017:1909101. Epub 2017 May 4.
    Department of Nutritional Sciences, University of Wisconsin-Madison, Madison, WI, USA.
    Background. Skeletal fragility is a complication of phenylketonuria (PKU). A diet containing amino acids compared with glycomacropeptide reduces bone size and strength in mice. Read More

    Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
    Eur J Pediatr 2017 Jul 24;176(7):917-924. Epub 2017 May 24.
    Department of Pediatrics, Child Neurology and Psychiatry, SAPIENZA University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.
    The tetrahydrobiopterin (BH4) cofactor is essential for the activity of various enzymes, including phenylalanine (Phe) hydroxylase. In phenylketonuria (PKU) patients, who are chronically exposed to high Phe levels, high urinary excretion of BH4 metabolites neopterin and biopterin is observed. The aim of this longitudinal study was to investigate consistence and variability of the urinary excretion of pterins (neopterin and biopterin) in PKU patients in relation to age and concomitant blood Phe and tyrosine levels. Read More

    Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.
    Iran J Public Health 2017 Apr;46(4):560-564
    Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c. Read More

    Organic anion transporters, OAT1 and OAT3, are crucial biopterin transporters involved in bodily distribution of tetrahydrobiopterin and exclusion of its excess.
    Mol Cell Biochem 2017 May 22. Epub 2017 May 22.
    Department of Anatomy, Nihon University School of Dentistry, 1-8-13, Kanda-Surugadai, Chiyoda, Tokyo, 101-8310, Japan.
    Tetrahydrobiopterin (BH4) is a common coenzyme of phenylalanine-, tyrosine-, and tryptophan hydroxylases, alkylglycerol monooxygenase, and NO synthases (NOS). Synthetic BH4 is used medicinally for BH4-responsive phenylketonuria and inherited BH4 deficiency. BH4 supplementation has also drawn attention as a therapy for various NOS-related cardio-vascular diseases, but its use has met with limited success in decreasing BH2, the oxidized form of BH4. Read More

    Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
    PLoS One 2017 17;12(5):e0176286. Epub 2017 May 17.
    Department of Biological Sciences, University of North Texas, Denton, Texas, United States of America.
    Phenylketonuria (PKU) is a genetic disease characterized by the inability to convert dietary phenylalanine to tyrosine by phenylalanine hydroxylase. Given the importance of gut microbes in digestion, a genetically engineered microbe could potentially degrade some ingested phenylalanine from the diet prior to absorption. To test this, a phenylalanine lyase gene from Anabaena variabilis (AvPAL) was codon-optimized and cloned into a shuttle vector for expression in Lactobacillus reuteri 100-23C (pHENOMMenal). Read More

    Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase).
    Mol Genet Metab 2017 Apr 29. Epub 2017 Apr 29.
    King's College London, Institute of Psychiatry, Psychology & Neuroscience, Maurice Wohl Clinical Neuroscience Institute, 5 Cutcombe Road, London SE5 9RX, UK. Electronic address:
    Pegylated recombinant phenylalanine ammonia lyase (pegvaliase) is an enzyme substitution therapy being evaluated for the treatment of phenylketonuria (PKU). PKU is characterized by elevated plasma phenylalanine, which is thought to lead to a deficiency in monoamine neurotransmitters and ultimately, neurocognitive dysfunction. A natural history evaluation in a mouse model of PKU demonstrated a profound decrease in tyrosine hydroxylase (TH) immunoreactivity in several brain regions, beginning at 4weeks of age. Read More

    Class enzyme-based motors for "on the fly" enantiomer analysis of amino acids.
    Biosens Bioelectron 2017 Oct 6;96:275-280. Epub 2017 May 6.
    Department of Analytical Chemistry, Physical Chemistry and Chemical Engineering, Faculty of Biology, Environmental Sciences and Chemistry, University of Alcalá, 28871 Alcalá de Henares, Madrid, Spain. Electronic address:
    Here, two class-enzyme motors are properly designed allowing the rapid dispersion of the class-enzyme D-amino acid oxidase (DAO) and L-amino acid oxidase (LAO) for selective "on the fly" biodetection of D and L-amino acids (AAs), respectively. The efficient movement together with the continuous release of fresh class-enzyme leads to a greatly accelerated enzymatic reaction processes without the need of external stirring or chemical and physical attachment of the enzyme. Ultra-fast detection (<2min) and accurate quantifications of L-phenylalanine (L-Phe) in plasma and whole-blood newborns samples diagnosed with Phenylketonuria and total D-AAs in Vibrio cholera cultures are pioneer illustrated as relevant examples of each enantiomer determination. Read More

    Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels.
    Arch Argent Pediatr 2017 06;115(3):267-273
    Hospital Universitario Río Hortega, Servicio de Pediatría, Valladolid (España).
    Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectal potential free of abnormalities in their daily activities due to deficits of cognitive executive functions. This study presents a series of 26 patients, diagnosed and treated early, who underwent a psychometric evaluation together with phenylalanine determinations along their lives, and at the time of doing the tests. A trend is observed towards a reverse relationship between IQ and concurrent phenylalanine concentration, phenylalanine median and phenylalanine/tyrosine ratio. Read More

    Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation.
    Mol Genet Metab Rep 2017 Jun 28;11:54-58. Epub 2017 Apr 28.
    Laboratory of Genetics and Metabolic Disease of INTA, Universidad de Chile, Chile.
    Introduction: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment.

    Aims: 1. Read More

    Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice.
    Front Neurol 2017 26;8:167. Epub 2017 Apr 26.
    Molecular Neurobiology, Groningen Institute for Evolutionary Life Sciences (GELIFES), University of Groningen, Groningen, Netherlands.
    Sleep problems have not been directly reported in phenylketonuria (PKU). In PKU, the metabolic pathway of phenylalanine is disrupted, which, among others, causes deficits in the neurotransmitters and sleep modulators dopamine, norepinephrine, and serotonin. Understanding sleep problems in PKU patients may help explain the pathophysiology of brain dysfunction in PKU patients. Read More

    Reduced bone mineral density in Chinese children with phenylketonuria.
    J Pediatr Endocrinol Metab 2017 May;30(6):651-656
    .
    Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder. Dietary control of classic PKU needs restriction of natural proteins. The diet results in unbalanced nutrition, which might affect the physical development of the patients. Read More

    Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review.
    Minerva Pediatr 2017 May 4. Epub 2017 May 4.
    Clinical Psychology, Department of Health Sciences, University of Milan, Milan, Italy.
    Introduction: Since phenylketonuria (PKU) appears to have specificities that might challenge the parents' adaptation and well-being, the present review aimed to evaluate the impact of parenting a child with PKU on parents' psychological and psychosocial functioning.

    Evidence Acquisition: A systematic electronic search was conducted using PubMED, Scopus, Embase, PsychInfo, Google Scholar and Cochrane Database to identify studies exploring psychological and psychosocial issues of parents of PKU children. The search retrieved 427 articles to review against inclusion criteria; a total of 17 studies were included in the review. Read More

    Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism.
    Int J Mol Sci 2017 04 29;18(5). Epub 2017 Apr 29.
    Department of Psychology, "Daniel Bovet", Neurobiology Research Center, Sapienza University of Rome, 00185 Rome, Italy.
    Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia and variable neurological and cognitive impairments. Among the potential pathophysiological mechanisms implicated in autism spectrum disorders is the excitation/inhibition (E/I) imbalance which might result from alterations in excitatory/inhibitory synapse development, synaptic transmission and plasticity, downstream signalling pathways, and intrinsic neuronal excitability. Read More

    Genetic Discoveries Highlight Environmental Factors as Key Drivers of Liver Disease.
    Dig Dis 2017 3;35(4):323-333. Epub 2017 May 3.
    Centre for Liver Research and National Institute for Health Research (NIHR) Birmingham Liver Biomedical Research Unit, College of Medical and Dental Sciences, Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK.
    Background: Over the last 50 years, genetic studies have uncovered a spectrum of rare and common alleles that confer susceptibility to both Mendelian and complex forms of liver disease. For disorders of Mendelian inheritance, identification of the causal variants has demonstrated that common environmental exposures can elicit severe liver pathogenesis in predisposed individuals. Specific environmental triggers for complex liver disorders are largely unknown; however, large-scale association studies indicate that environmental triggers are the predominant factors in driving liver pathophysiology. Read More

    Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip.
    Anal Biochem 2017 Aug 29;530:31-39. Epub 2017 Apr 29.
    Department of Materials Sciences and Engineering, Yonsei University, Seoul, South Korea. Electronic address:
    Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%. Read More

    Health-promoting ingredients from four selected Azorean macroalgae.
    Food Res Int 2016 Nov 10;89(Pt 1):432-438. Epub 2016 Aug 10.
    Research Center for Agricultural Technology (CITA-A), Department of Technological Sciences and Development (DCTD), University of Azores, 9501-801 Ponta Delgada, S. Miguel, Azores, Portugal.
    This study presents, for the first time, the nutritional and health promoting aspects of four selected Azorean macroalgae (Ulva compressa, Ulva rigida, Gelidium microdon and Pterocladiella capillacea) in terms of total lipids, fatty acids (FA) profile, n6/n3 and hypocholesterolemic (h)/hypercholesterolemic (H) FA ratios, minerals, total essential amino acids (AA), anti-ageing and anti-phenylketonuria AA content, coenzyme Q10, α-tocopherol, total phenolics, antioxidant properties and energy value, on a dry weight basis. The results revealed low lipid content (1.02-4. Read More

    Work activity and phenylalanine levels in a population of young adults with classic PKU.
    Med Lav 2017 Apr 21;108(2):118-122. Epub 2017 Apr 21.
    Università degli Studi di Milano Bicocca.
    Background: Phenylketonuria (PKU) is an inborn error of metabolism characterized by increased blood concentrations of phenylalanine (Phe).

    Objectives: The aim of the present study was to assess the association between the metabolic compliance of adult patients affected by classic PKU and the characteristics of their present and past occupations.

    Methods: The study population consisted of working adults, affected by classic PKU, and following a dietary treatment. Read More

    Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source.
    Eur J Clin Nutr 2017 Apr 12. Epub 2017 Apr 12.
    Centro de Genética Médica, Centro Hospitalar do Porto (CHP), Porto, Portugal.
    Background/objectives: Low phenylalanine (PHE), glycomacropeptide-based protein substitute (GMP) is an alternative to traditional L-amino acid supplements (AA) used in the dietary management of phenylketonuria (PKU). In a retrospective, longitudinal study, we report the nutritional status of PKU patients taking AA and GMP.

    Subjects/methods: Eleven PKU patients aged 27±10 years (1 HPA, 4 mild and 6 classical PKU) on dietary treatment were evaluated (anthropometry, body composition, blood pressure measurements, biochemical markers including vitamin, mineral, lipids, carbohydrates and protein status/metabolism, and nutritional intake assessment) at two different annual reviews. Read More

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