Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies
Opladen, Thomas (University Children's Hospital. Division of Child Neurology and Metabolic Disorders)
López-Laso, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya))
Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Pearson, Toni S. (Washington University School of Medicine. Department of Neurology)
Sivri, H. Serap (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism)
Yildiz, Yilmaz (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism)
Assmann, Birgit (University Children's Hospital. Division of Child Neurology and Metabolic Disorders)
Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres))
Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience)
Heales, Simon (National Hospital. Neurometabolic Unit)
Pope, Simon (National Hospital. Neurometabolic Unit)
Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics)
García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Honzík, Tomáš (Charles University. Faculty of Medicine in Hradec Králové)
Pons, Roser (Aghia Sofia Hospital. First Department of Pediatrics of the University of Athens)
Regal, Luc (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit)
Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics)
Artuch, R. (Institut de Recerca Sant Joan de Déu)
Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders)
Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital)
Thöny, Beat (University Children's Hospital Zurich. Division of Metabolism)
Scholl-Bürgi, Sabine (Medical University of Innsbruck. Clinic for Pediatrics I)
Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova)
Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine)
Mastrangelo, Mario (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience)
Friedman, Jennifer (Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine. UCSD Departments of Neuroscience and Pediatrics)
Wassenberg, Tessa (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit)
Jeltsch, Kathrin (University Children's Hospital. Division of Child Neurology and Metabolic Disorders)
Kulhánek, Jan (Charles University. Faculty of Medicine in Hradec Králové)
Kuseyri Hübschmann, Oya (University Children's Hospital. Division of Child Neurology and Metabolic Disorders)
Universitat Autònoma de Barcelona

Date:	2020
Abstract:	Tetrahydrobiopterin (BH) 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 BH biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH deficiencies, 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 BH deficiencies. Although 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 BH deficient patients.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article de revisió ; Article ; Versió publicada
Subject:	Tetrahydrobiopterin deficiency ; BH4 ; CDihydropteridine reductase deficiency; ; Neurotransmitter ; Guanosine triphosphate cyclohydrolase deficiency ; 6-pyruvoyltetrahydropterin synthase deficiency ; Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency ; Dihydropteridine reductase deficiency ; Hyperphenylalaninemia ; INTD ; Consensus guidelines ; SIGN
Published in:	Orphanet Journal of Rare Diseases, Vol. 15 (may 2020) , ISSN 1750-1172

DOI: 10.1186/s13023-020-01379-8
PMID: 32456656

30 p, 1.7 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Articles > Published articles