1. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
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Georg F. Hoffmann, Toni S. Pearson, Birgit Assmann, Yilmaz Yildiz, Beat Thöny, Roser Pons, Elisenda Cortès-Saladelafont, Helly Goez, Francesco Porta, Marcel M. Verbeek, H. Serap Sivri, Sabine Scholl-Bürgi, Gabriella Horvath, Simon Heales, Tessa Wassenberg, Manju A. Kurian, Kathrin Jeltsch, Eduardo López-Laso, Thomas Opladen, Angeles Garcia-Cazorla, Oya Kuseyri Hübschmann, Jennifer Friedman, Jan Kulhánek, Rafael Artuch, Vincenzo Leuzzi, Mario Mastrangelo, Luc Régal, Simon Pope, Tomas Honzik, Alberto Burlina, International Working Group on Neurotransmitter related Disorders (iNTD), [Opladen,T, Assman,B, Hoffmann,GF, Jeltsch,K, Kuseyri Hübschmann,O] Division of Child Neurology and Metabolic Disorders, University Children’s Hospital, Heidelberg, Germany. [López-Laso,E] Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain. [Cortès-Saladelafont,E, García-Cazorla,A] Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain. [Cortès-Saladelafont,E] Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol, and Faculty of Medicine, Universitat Autònoma de Barcelona, Badalona, Spain. [Pearson,TS] Department of Neurology, Washington University School of Medicine, St. Louis, USA. [Sivri,HS, Yildiz,Y] Department of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, Ankara, Turkey. [Kurian,MA] Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, UK. [Kurian,MA] Department of Neurology, Great Ormond Street Hospital, London, UK. [Leuzzi,V, Mastrangelo,M] Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy. [Heales,S, Pope,S] Neurometabolic Unit, National Hospital, Queen Square, London, UK. [Porta,F] Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy. [Honzík,T, Kulhánek,J] Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. [Pons,R] First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece. [Regal,L, Wassenberg,T] Department of Pediatric, Pediatric Neurology and Metabolism Unit, UZ Brussel, Brussels, Belgium. [Goez,H] Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, Canada. [Artuch,R] Clinical biochemistry department, Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu, Barcelona, Spain. [Horvath,G] Department of Pediatrics, Division of Biochemical Genetics, BC Children’s Hospital, University of British Columbia, Vancouver, BC, Canada. [Thöny,B] Division of Metabolism, University Children’s Hospital Zurich, Zürich, Switzerland. [Scholl-Bürgi,S] Clinic for Pediatrics I, Medical University of Innsbruc, Innsbruck, Austria. [Burlina,A] U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d’Abano, Padova, Italy. [Verbeek,MM] Departments of Neurology and Laboratory Medicine, Alzheimer Centre, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. [Friedman,J] UCSD Departments of Neuroscience and Pediatrics, Rady Children’s Hospital Division of Neurology, Rady Children’s Institute for Genomic Medicine, San Diego, USA., TO and KJ were supported in parts by the Dietmar Hopp Foundation, St. Leon-Rot, Germany. MAK is funded by an NIHR Professorship and the Sir Jules Thorn Award for Biomedical Research., and Pediatrics
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Tetrahydrobiopterin deficiency ,Hyperphenylalaninemia ,Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency ,lcsh:Medicine ,Review ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,chemistry.chemical_compound ,6-Pyruvoyltetrahydropterin synthase deficiency ,Phenylketonurias ,Publication Type::Publication Formats::Guideline [Medical Subject Headings] ,Pharmacology (medical) ,Dihydropteridine reductase deficiency ,Neurotransmitter ,Genetics (clinical) ,Guía ,BH4 ,General Medicine ,Tetrahydrobiopterin ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,Sepiapterin reductase deficiency ,Dystonia ,Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds, 2-Ring::Pteridines::Pterins::Biopterin [Medical Subject Headings] ,Consenso ,6-pyruvoyltetrahydropterin synthase deficiency ,Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors [Medical Subject Headings] ,iNTD ,SIGN ,medicine.drug ,BH ,4 ,Consensus guidelines ,Guanosine triphosphate cyclohydrolase deficiency ,medicine.medical_specialty ,Fenilcetonurias ,Dopamine ,medicine ,Humans ,pterin-4-alpha-carbinolamine dehydratase deficiency ,Intensive care medicine ,Neurotransmisores ,business.industry ,Psychiatry and Psychology::Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus [Medical Subject Headings] ,lcsh:R ,Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents [Medical Subject Headings] ,Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Metabolism, Inborn Errors::Brain Diseases, Metabolic, Inborn::Phenylketonurias [Medical Subject Headings] ,medicine.disease ,Biopterin ,Monoamine neurotransmitter ,chemistry ,6- pyruvoyltetrahydropterin synthase deficiency ,business ,Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Dyskinesias::Dystonia [Medical Subject Headings] ,Metabolism, Inborn Errors - Abstract
BackgroundTetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH4deficiencies.ConclusionAlthough the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH4deficient patients.
- Published
- 2020
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