Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
- Opladen T Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. Thomas.Opladen@med.uni-heidelberg.de.
- López-Laso E Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.
- Cortès-Saladelafont E Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
- Pearson TS Department of Neurology, Washington University School of Medicine, St. Louis, USA.
- Sivri HS Department of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, 06100, Ankara, Turkey.
- Yildiz Y Department of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, 06100, Ankara, Turkey.
- Assmann B Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
- Kurian MA Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, UK.
- Leuzzi V Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
- Heales S Neurometabolic Unit, National Hospital, Queen Square, London, UK.
- Pope S Neurometabolic Unit, National Hospital, Queen Square, London, UK.
- Porta F Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy.
- García-Cazorla A Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
- Honzík T 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 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.
- Hoffmann GF Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
- 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 Innsbruck, Anichstr 35, 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.
- Mastrangelo M Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
- 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.
- Wassenberg T Department of Pediatric, Pediatric Neurology and Metabolism Unit, UZ Brussel, Brussels, Belgium.
- Jeltsch K Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
- Kulhánek J Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. Jan.Kulhanek@vfn.cz.
- Kuseyri Hübschmann O Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
- 2020-05-28
Published in:
- Orphanet journal of rare diseases. - 2020
6-pyruvoyltetrahydropterin synthase deficiency
BH4
Consensus guidelines
Dihydropteridine reductase deficiency
Guanosine triphosphate cyclohydrolase deficiency
Hyperphenylalaninemia
Neurotransmitter
SIGN
Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency
Tetrahydrobiopterin deficiency
iNTD
English
BACKGROUND
Tetrahydrobiopterin (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 BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 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 BH4 deficiencies.
CONCLUSION
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 BH4 deficient patients.
Tetrahydrobiopterin (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 BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 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 BH4 deficiencies.
CONCLUSION
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 BH4 deficient patients.
- Language
-
- English
- Open access status
- gold
- Identifiers
-
- DOI 10.1186/s13023-020-01379-8
- PMID 32456656
- Persistent URL
- https://sonar.ch/global/documents/91146
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