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Phenylketonuria

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https://www.readbyqxmd.com/read/28334709/micronutrients-essential-fatty-acids-and-bone-health-in-phenylketonuria
#1
Serwet Demirdas, Francjan J van Spronsen, Carla E M Hollak, J Hanneke van der Lee, Peter H Bisschop, Fred M Vaz, Nienke M Ter Horst, M Estela Rubio-Gozalbo, Annet M Bosch
INTRODUCTION: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment. METHODS: Sixty early diagnosed Dutch patients (aged 1-39 years) were included in a multi-center cross-sectional study...
March 24, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28318688/impact-of-phenylketonuria-type-meal-on-appetite-thermic-effect-of-feeding-and-postprandial-fat-oxidation
#2
Hani Alfheeaid, Konstantinos Gerasimidis, Ana-Maria Năstase, Mie Elhauge, Barbara Cochrane, Dalia Malkova
BACKGROUND: Dietary management of phenylketonuria (PKU) requires the replacement of natural protein-containing foods with special low protein foods. The effect of a PKU type diet on factors contributing to energy balance requires investigation. OBJECTIVE: To investigate the impact of a PKU type meal on appetite ratings, gut appetite hormones, thermic effect of feeding (TEF) and fat oxidation. METHODS: Twenty-three healthy adults (mean ± SD age: 24...
March 8, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28318283/cognitive-profile-and-mental-health-in-adult-phenylketonuria-a-pku-cobeso-study
#3
Rianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, Jaap J van der Meere, Amanda M Legemaat, 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, Francjan J van Spronsen
OBJECTIVE: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment. METHOD: Fifty-seven early treated adult patients with phenylketonuria and 57 healthy matched controls (18-40 years) performed IQ subtests and executive function tests from the Amsterdam Neuropsychological Tasks...
March 20, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28302355/effects-of-short-term-calcium-supplementation-in-children-and-adolescents-with-phenylketonuria
#4
Nancy Y Y Tanaka, Marlene F Turcato, Carolina F Nicoletti, Carla B Nonino, Luciana D Martins, Odilon Iannetta, Carlos Guerreiro, Gisele G Santos, Júlio S Marchini
Reduction of bone mineral density and the risk of osteopenia have been reported to occur in phenylketonuria (PKU) patients. This study aimed to evaluate the short-term effects of calcium supplementation in phenylketonuric children and adolescents. The study included 18 patients with PKU aged 5-18 yr (61% male) under clinical and nutritional treatment. Evaluation of food intake, anthropometry, and biochemical and phalangeal quantitative ultrasound were performed before (phase 1) and after (phase 2) calcium supplementation (1000 mg/d) for 34 d...
March 13, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28293905/hyperphenylalaninemia-correlated-with-global-decrease-of-antioxidant-genes-expression-in-white-blood-cells-of-adult-patients-with-phenylketonuria
#5
Charlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, Franck Patin, Hélène Henique, Patrick Emond, Catherine Antar, Valérie Gissot, Olivier Herault, François Maillot
BACKGROUND: Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia. METHODS: We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls...
March 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28285739/neuropsychiatric-comorbidities-in-adults-with-phenylketonuria-a-retrospective-cohort-study
#6
Deborah A Bilder, Joyce A Kobori, Jessica L Cohen-Pfeffer, Erin M Johnson, Elaina R Jurecki, Mitzie L Grant
Adults with phenylketonuria (PKU) may experience neurologic and psychiatric disorders, including intellectual disability, anxiety, depression, and neurocognitive dysfunction. Identifying the prevalence and prevalence ratios of these conditions will inform clinical treatment. This nested, case-controlled study used International Classification of Diseases, Ninth Revision (ICD-9) codes from the MarketScan® insurance claims databases from 2006 to 2012 and healthcare claims data for US-based employer and government-sponsored health plans...
March 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28284394/impaired-neurotransmission-in-early-treated-phenylketonuria-patients
#7
María Julieta González, Rosa Gassió, Rafael Artuch, Jaume Campistol
Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the pathophysiology of PKU, primarily characterized by impaired dopamine and serotonin synthesis. These deficits are related to executive dysfunctions and social-emotional problems, respectively, in early treated patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284388/neonatal-screening-for-inherited-metabolic-diseases-in-2016
#8
Judit Garcia Villoria, Sonia Pajares, Rosa María López, José Luis Marin, Antonia Ribes
The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28282402/formulation-and-pegylation-optimization-of-the-therapeutic-pegylated-phenylalanine-ammonia-lyase-for-the-treatment-of-phenylketonuria
#9
Sean M Bell, Dan J Wendt, Yanhong Zhang, Timothy W Taylor, Shinong Long, Laurie Tsuruda, Bin Zhao, Phillip Laipis, Paul A Fitzpatrick
Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe). Due to many obstacles, PAH enzyme replacement therapy is not currently an option. Treatment of PKU with an alternative enzyme, phenylalanine ammonia lyase (PAL), was first proposed in the 1970s. However, issues regarding immunogenicity, enzyme production and mode of delivery needed to be overcome. Through the evaluation of PAL enzymes from multiple species, three potential PAL enzymes from yeast and cyanobacteria were chosen for evaluation of their therapeutic potential...
2017: PloS One
https://www.readbyqxmd.com/read/28274259/development-of-the-us-english-version-of-the-phenylketonuria-quality-of-life-pku-qol-questionnaire
#10
Elaina Jurecki, Amy Cunningham, Vanessa Birardi, Grégory Gagol, Catherine Acquadro
BACKGROUND: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria - quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers...
March 9, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28274234/efficacy-safety-and-population-pharmacokinetics-of-sapropterin-in-pku-patients-4%C3%A2-years-results-from-the-spark-open-label-multicentre-randomized-phase-iiib-trial
#11
Ania C Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzzi, Frank Rutsch, H Serap Sivri, Suresh Vijay, Milva Orquidea Bal, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelie S Lotz-Havla, Alain Munafo, Diane R Mould, Flavie Moreau-Stucker, Daniela Rogoff
BACKGROUND: Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylketonuria. The aim of the SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) trial was to assess the efficacy (improvement in daily phenylalanine tolerance, neuromotor development and growth parameters), safety and pharmacokinetics of sapropterin dihydrochloride in children <4 years...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28271047/pretreatment-cognitive-and-neural-differences-between-sapropterin-dihydrochloride-responders-and-non-responders-with-phenylketonuria
#12
Zoë Hawks, Joshua Shimony, Jerrel Rutlin, Dorothy K Grange, Shawn E Christ, Desirée A White
Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as "responders." Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligence and white matter integrity prior to treatment with BH4 in 13 subsequent BH4 responders with PKU, 16 subsequent BH4 non-responders with PKU, and 12 healthy controls...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28240926/the-impact-of-phenylalanine-levels-on-cognitive-outcomes-in-adults-with-phenylketonuria-effects-across-tasks-and-developmental-stages
#13
Cristina Romani, Liana Palermo, Anita MacDonald, Ellie Limback, S Kate Hall, Tarekegn Geberhiwot
OBJECTIVE: Phenylketonuria (PKU) is due to an inability to metabolize the amino acid phenylalanine (Phe), leading to its accumulation in the brain. Phe levels can be controlled following a protein-free diet, but cognitive impairments are still present. A number of questions remain to be answered related to which type of metabolic control is important, the age when it is important, the cognitive functions which are most affected and, the best tests to use to monitor cognitive health. METHOD: We investigated the impact of metabolic control at different ages on cognitive performance in 37 early treated adults with PKU...
March 2017: Neuropsychology
https://www.readbyqxmd.com/read/28224082/clinical-characteristics-of-adult-patients-with-inborn-errors-of-metabolism-in-spain-a-review-of-500-cases-from-university-hospitals
#14
J Pérez-López, L Ceberio-Hualde, J S García-Morillo, J M Grau-Junyent, A Hermida Ameijeiras, M López-Rodríguez, J C Milisenda, M Moltó Abad, M Morales-Conejo, J J Nava Mateos
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28218773/risk-factors-for-birth-defects
#15
REVIEW
Benjamin S Harris, Katherine C Bishop, Hanna R Kemeny, Jennifer S Walker, Eleanor Rhee, Jeffrey A Kuller
Importance: Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic, involving multiple organ systems, or can be isolated. Overall, 2% to 4% of live births involve congenital abnormalities. Risk factors for birth defects are categorized as modifiable and nonmodifiable. Modifiable risk factors require thorough patient education/counseling. The strongest risk factors, such as age, family history, and a previously affected child, are usually nonmodifiable...
February 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28182360/mutation-analysis-in-classical-phenylketonuria-patients-followed-by-detecting-haplotypes-linked-to-some-pah-mutations
#16
Fatemeh Dehghanian, Mohammad Silawi, Seyed M B Tabei
BACKGROUND: Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations...
February 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28168360/nenad-blau-ed-phenylketonuria-and-bh4-deficiencies-3rd-edition-2016-112-pp-39-80-euro-isbn-978-3-8374-1526-1
#17
Avihu Boneh
No abstract text is available yet for this article.
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28165881/subtle-visuomotor-deficits-and-reduced-benefit-from-practice-in-early-treated-phenylketonuria
#18
Claudia Caprile, Jaume Campistol, Laura Puigcerver, Alfonso-Pablo Gutiérrez-Mata, Itziar Alonso-Colmenero, Roser Colomé, Jordi Navarra
INTRODUCTION: Phenylketonuria (PKU) is a rare metabolic disease that causes slight-to-severe neurological symptoms. Slow performance has been observed in PKU but the influence of high-order (i.e., not purely motor) deficits and of temporary variations of the phenylalanine (Phe) level on this slowness has not been fully corroborated as yet. Response speed and the effect of motor practice during the performance of a visuomotor coordination task were measured, in a group of patients with early-treated phenylketonuria (ET PKU)...
February 6, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28162992/adherence-to-clinic-recommendations-among-patients-with-phenylketonuria-in-the-united-states
#19
E R Jurecki, S Cederbaum, J Kopesky, K Perry, F Rohr, A Sanchez-Valle, K S Viau, M Y Sheinin, J L Cohen-Pfeffer
OBJECTIVE: Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations. METHODS: An online survey was conducted with medical professionals from PKU clinics across the US from July to September 2015. Forty-four clinics participated in the survey and account for approximately half of PKU patients currently followed in clinics in the US (Berry et al...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28132689/biallelic-mutations-in-dnajc12-cause-hyperphenylalaninemia-dystonia-and-intellectual-disability
#20
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A Gahl, J Wade Harper, Nenad Blau, Georg F Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes...
February 2, 2017: American Journal of Human Genetics
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