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    1 OF 152

    The Effects of Breastfeeding in Infants With Phenylketonuria.
    J Pediatr Nurs 2017 Oct 19;38:27-32. Epub 2017 Oct 19.
    Dokuz Eylul University Faculty of Medicine, Department of Pediatric Gastroenterology, Izmir, Turkey.
    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. Read More

    Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient.
    Stem Cell Res 2017 Nov 10;25:179-182. Epub 2017 Nov 10.
    State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China. Electronic address:
    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. Read More

    [Bone metabolism in adults with phenylketonuria - Hungarian data].
    Orv Hetil 2017 Nov;158(47):1868-1872
    II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1088.
    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. Read More

    [Adult phenylketonuria].
    Orv Hetil 2017 Nov;158(47):1857-1863
    II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1084.
    Starting from 1975 phenylketonuria is part of the newborn screening program in Hungary. Since then a generation, treated with special diet and medical foods right after neonatal diagnosis has reached adulthood. Thanks to early treatment initiation, children with phenylketonuria are able to lead life to the full. Read More

    Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.
    J Inherit Metab Dis 2017 Nov 14. Epub 2017 Nov 14.
    Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, the Netherlands.
    Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. Read More

    A facile method for urinary phenylalanine measurement on paper-based lab-on-chip for PKU therapy monitoring.
    Analyst 2017 Nov 15. Epub 2017 Nov 15.
    STMicroelectronics, Stradale Primosole, 50-95121 Catania, Italy.
    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. Read More

    Neuropsychological profile in parents of adult phenylketonuria patients.
    Neurol Sci 2017 Nov 9. Epub 2017 Nov 9.
    Department of Psychology, University of Campania "Luigi Vanvitelli", Caserta, Italy.
    Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism, causing cognitive and behavioral disorders when not treated. Heterozygotes (i.e. Read More

    The influence of parental food preference and neophobia on children with phenylketonuria (PKU).
    Mol Genet Metab Rep 2018 Mar 31;14:10-14. Epub 2017 Oct 31.
    Birmingham Women's and Children's Hospital NHS Foundation Trust, United Kingdom.
    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. Read More

    Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus.
    Cogn Neuropsychol 2017 Nov 9:1-9. Epub 2017 Nov 9.
    a Department of General Psychology , University of Padua , Padua , Italy.
    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. Read More

    Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.
    Int J Health Sci (Qassim) 2017 Nov-Dec;11(5):63-70
    Department of Pathology, Clinical Biochemistry Unit, King Saud University Medical City, King Saud University, Riyadh Saudi Arabia.
    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. Read More

    Predictive modelling of the exposure to steviol glycosides in Irish patients aged 1-3 years with phenylketonuria and cow's milk protein allergy.
    Food Addit Contam Part A Chem Anal Control Expo Risk Assess 2017 Nov 22:1-9. Epub 2017 Nov 22.
    a UCD Institute of Food and Health, School of Agriculture and Food Science , University College Dublin , Dublin , Republic of Ireland.
    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. Read More

    Caregiver Quality of Life with Tyrosinemia Type 1.
    J Genet Couns 2017 Nov 6. Epub 2017 Nov 6.
    Department of Human Genetics, Emory University, 2165 North Decatur Road, Atlanta, GA, 30033, USA.
    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. Read More

    "Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.
    Mol Genet Metab 2017 Oct 20. Epub 2017 Oct 20.
    Division of Genetics and Metabolism, Childrens' National Health System, Washington, DC, United States.
    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. Read More

    Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
    Biochem Genet 2017 Nov 1. Epub 2017 Nov 1.
    DHQ Hospital, Faisalabad Medical University, Faisalabad, Pakistan.
    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. Read More

    Growth and Final Height Among Children With Phenylketonuria.
    Pediatrics 2017 Nov;140(5)
    Center for Pediatric Research Leipzig, Department of Women and Child Health, Hospital for Children and Adolescents, University Hospitals,
    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. Read More

    Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report.
    Mol Genet Metab Rep 2017 Dec 18;13:105-110. Epub 2017 Oct 18.
    Centro de Genética Médica, Centro Hospitalar do Porto (CHP), Porto, Portugal.
    Background: In maternal PKU, protein substitute (PS) is provided by phenylalanine (PHE)-free l-amino acids (AA), but glycomacropeptide-based protein substitute (GMP) is an alternative consideration.

    Objective: To describe the first Portuguese Maternal Phenylketonuria (MPKU) partially managed with GMP.

    Case Report: A 31 year old MPKU female with classical PKU (mutations P281L/P281L), diagnosed by newborn screening, had a lifelong history of poor metabolic control. Read More

    Multiclinic Observations on the Simplified Diet in PKU.
    J Nutr Metab 2017 13;2017:4083293. Epub 2017 Sep 13.
    Department of Nutrition, Boston Children's Hospital, Boston, MA, USA.
    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. Read More

    Increase of Bacillus badius Phenylalanine dehydrogenase specificity towards phenylalanine substrate by site-directed mutagenesis.
    Arch Biochem Biophys 2017 Dec 16;635:44-51. Epub 2017 Oct 16.
    Department of Biochemistry, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran. Electronic address:
    Phenylalanine dehydrogenase (PheDH) is a key enzyme in medical diagnostic for determining the amount of phenylalanine to detect phenylketonuria (PKU) disease. However, determination of phenylalanine can be usually disturbed in presence of tyrosine in blood samples. Position N145 of B. Read More

    Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia.
    J Pediatr Endocrinol Metab 2017 Oct;30(11):1211-1218
    .
    Background: The accurate interpretation of sequence variation is critical for successful molecular diagnoses. It is also fundamental to the accurate diagnosis and treatment of phenylketonuria (PKU). This study aims to evaluate the significance of the c. Read More

    Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria.
    JIMD Rep 2017 Oct 14. Epub 2017 Oct 14.
    National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.
    Adherence to dietary and treatment recommendations is a long-standing concern for adults and adolescents with PKU and treating clinicians. In about 20-30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The European PKU 2017 Guidelines recommends treatment with BH4 for cases of proven long-term BH4 responsiveness, with a recommended dosage of Sapropterin 10-20 mg/kg/day. Read More

    The complete European guidelines on phenylketonuria: diagnosis and treatment.
    Orphanet J Rare Dis 2017 Oct 12;12(1):162. Epub 2017 Oct 12.
    Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands.
    Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Read More

    First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU.
    Mol Genet Metab Rep 2017 Dec 5;13:90-94. Epub 2017 Oct 5.
    Laboratory of Genetics and Metabolic Disease of INTA, Universidad de Chile, Chile.
    There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 μmol/L (group A), between 240 and 360 μmol/L (group B) or over 360 μmol/L (group C) during their first year of life. Read More

    Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
    BMC Med Genet 2017 Oct 5;18(1):108. Epub 2017 Oct 5.
    Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China.
    Background: Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China. Read More

    Multifaceted plant responses to circumvent Phe hyperaccumulation by downregulation of flux through the shikimate pathway and by vacuolar Phe sequestration.
    Plant J 2017 Dec 8;92(5):939-950. Epub 2017 Nov 8.
    Department of Biochemistry, Purdue University, West Lafayette, IN, 47907, USA.
    Detrimental effects of hyperaccumulation of the aromatic amino acid phenylalanine (Phe) in animals, known as phenylketonuria, are mitigated by excretion of Phe derivatives; however, how plants endure Phe accumulating conditions in the absence of an excretion system is currently unknown. To achieve Phe hyperaccumulation in a plant system, we simultaneously decreased in petunia flowers expression of all three Phe ammonia lyase (PAL) isoforms that catalyze the non-oxidative deamination of Phe to trans-cinnamic acid, the committed step for the major pathway of Phe metabolism. A total decrease in PAL activity by 81-94% led to an 18-fold expansion of the internal Phe pool. Read More

    Recent Advances in the Development of Pharmaceutical Agents for Metabolic Disorders: A Computational Perspective.
    Curr Med Chem 2017 10 2. Epub 2017 Oct 2.
    Institute of Biomedical Chemistry, Moscow, 119121. Russian Federation.
    Background: Metabolic disorders comprise a set of different disorders varying from epidemic diseases such as diabetes mellitus to inborn metabolic orphan diseases such as phenylketonuria. Despite considerable evidence showing the importance of the computational methods in discovery and development of new pharmaceuticals, there are no systematic reviews outlining how they are utilized in the field of metabolic disorders. This review aims to discuss the necessity of the development of web-based tools and databases by integration of available information for solving Big Data problems in network pharmacology of metabolic disorders. Read More

    Phenylalanine Increases Membrane Permeability.
    J Am Chem Soc 2017 Oct 9;139(41):14388-14391. Epub 2017 Oct 9.
    University of Colorado Boulder , 215 UCB, Boulder, Colorado 80309, United States.
    Biological membranes are a crucial aspect of living systems, controlling the organization and distribution of different chemical components. Control of membrane permeability is especially important for processes such as electron transport in metabolism and signal propagation in nerve cells. In this work, we show that the amino acid phenylalanine produces increased membrane permeability, which is likely responsible for some of the deleterious symptoms associated with high biological phenylalanine concentrations that occur with the genetic disorder phenylketonuria. Read More

    Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
    JIMD Rep 2017 Sep 28. Epub 2017 Sep 28.
    Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
    The present study provides a retrospective overview of the cohort of phenylketonuria (PKU) patients in Estonia. Based on the available data, the patients clearly cluster into two distinct groups: the patients with late diagnosis and start of therapy (N = 46), who were born before 1993 when the national newborn screening programme was launched, and the screened babies (N = 48) getting their diagnoses at least in a couple of weeks after birth.Altogether 153 independent phenylalanine hydroxylase (PAH) alleles from 92 patients were analysed in the study, wherein 80% of them were carrying the p. Read More

    Fifteen years of using a second stage protein substitute for weaning in phenylketonuria: a retrospective study.
    J Hum Nutr Diet 2017 Sep 21. Epub 2017 Sep 21.
    Dietetic Department, Birmingham Children's Hospital, Birmingham, UK.
    Background: In phenylketonuria (PKU), during weaning, it is necessary to introduce a second stage phenylalanine (Phe)-free protein substitute (PS) to help meet non-Phe protein requirements. Semi-solid weaning Phe-free PS have been available for >15 years, although no long-term studies have reported their efficacy.

    Methods: Retrospective data from 31 children with PKU who commenced a weaning PS were collected from clinical records from age of weaning to 2 years, on: gender; birth order; weaning age; anthropometry; blood Phe levels; age commenced and dosage of weaning PS and Phe-free infant L-amino acid formula; natural protein intake; and issues with administration of PS or food. Read More

    The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria.
    JIMD Rep 2017 Sep 24. Epub 2017 Sep 24.
    Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, Kraków, Poland.
    Hyperphenylalaninemia-related, subtle deficits of attention and of working memory are often reported in adolescents with phenylketonuria. Focused neuropsychological tests can be used to detect such deficits and to confirm the presence of poor metabolic control in the periods between routine blood phenylalanine tests, which are rarely performed in many patients from this age group due to their low treatment adherence.We assessed the practical value of the d2 test of attention and of the Benton visual retention test for identification of teenagers, who have a high risk of brain dysfunction due to hyperphenylalaninemia. Read More

    Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
    BMC Med Genet 2017 Sep 16;18(1):102. Epub 2017 Sep 16.
    Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
    Background: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylalanine is considered to be the main treatment of PKU to prevent irreversible intellectual disability. However, the same dietary intervention in BH4 deficiency patients is not as effective, as BH4 is also a cofactor in many neurotransmitter syntheses. Read More

    Intrinsic property of phenylalanine to trigger protein aggregation and hemolysis has a direct relevance to phenylketonuria.
    Sci Rep 2017 Sep 11;7(1):11146. Epub 2017 Sep 11.
    School of Life Sciences, Jawaharlal Nehru University, New Delhi, 110067, India.
    Excess accumulation of phenylalanine is the characteristic of untreated Phenylketonuria (PKU), a well-known genetic abnormality, which triggers several neurological, physical and developmental severities. However, the fundamental mechanism behind the origin of such diverse health problems, particularly the issue of how they are related to the build-up of phenylalanine molecules in the body, is largely unknown. Here, we show cross-seeding ability of phenylalanine fibrils that can effectively initiate an aggregation process in proteins under physiological conditions, converting native protein structures to β-sheet assembly. Read More

    Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria.
    Acta Biochim Pol 2017 31;64(3):527-531. Epub 2017 Aug 31.
    Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, Kraków, Poland.
    Insufficient treatment adherence after early childhood is frequently observed in patients with phenylketonuria. Assessment of these individuals' long-term metabolic control could enable early detection of the risk of intellectual deterioration resulting from high blood phenylalanine concentration. However, the predictive value of specific parameters related to individual dynamics of hyperphenylalaninemia is not clear. Read More

    Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
    PLoS One 2017 29;12(8):e0183430. Epub 2017 Aug 29.
    Department of Psychology and Centro "Daniel Bovet", Sapienza University, Rome, Italy.
    Phenylketonuria (PKU) is one of the most common human inborn errors of metabolism, caused by phenylalanine hydroxylase deficiency, leading to high phenylalanine and low tyrosine levels in blood and brain causing profound cognitive disability, if untreated. Since 1960, population is screened for hyperphenylalaninemia shortly after birth and submitted to early treatment in order to prevent the major manifestations of the disease. However, the dietetic regimen (phenylalanine free diet) is difficult to maintain, and despite the recommendation to a strict and lifelong compliance, up to 60% of adolescents partially or totally abandons the treatment. Read More

    Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria.
    Ann Nutr Metab 2017 Aug 26;71(3-4):129-135. Epub 2017 Aug 26.
    Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland.
    Background: Adult phenylketonuria (PKU) patients often reduce their intake of amino acid mixture (AAM) to less than the prescribed amounts. Effects of reduced AAM intake on nutrient supply were evaluated.

    Methods: Nutrient intake was calculated in 20 adult PKU patients based on a structured food record and complemented by laboratory assessment of nutritional status. Read More



    Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.
    JIMD Rep 2017 Aug 25. Epub 2017 Aug 25.
    School of Health Sciences, University of Manchester, Manchester, UK.
    Phenylketonuria (PKU) is a rare genetic disorder in which the amino acid phenylalanine cannot be sufficiently metabolised. Although a build-up of phenylalanine causes irreversible cognitive impairment, this can be prevented through a strict, lifelong diet restricted in natural protein. Despite the severe consequences of poor metabolic control, many children and adolescents have phenylalanine levels above their recommended limits. Read More

    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 Oct;30(10):1121-1124
    .
    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 9. Epub 2017 Aug 9.
    Universidade Federal de Minas Gerais (UFMG), Faculdade de Medicina, Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), Belo Horizonte, MG, Brazil; 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.

    Methods: Descriptive study of patients with BH4 deficiency identified by the Neonatal Screening Program of the State of Minas Gerais.

    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 Nov 23;34(11):1863-1874. Epub 2017 Aug 23.
    a UCD Institute of Food and Health, School of Agriculture and Food Science , University College Dublin , Dublin , 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 Sep 3;47(5):486-497. 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 Nov 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 Sep;17(19):3246-3257
    Department of Bioengineering, Micro and Nano Technology Laboratory, University of Illinois at Urbana-Champaign, 208 N. Wright Street, Urbana, IL 61801, 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 Sep 20;122(1-2):36-42. 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

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