Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Por:
Opladen, T, Lopez-Laso, E, Cortes-Saladelafont, E, Pearson, TS, Sivri, HS, Yildiz, Y, Assmann, B, Kurian, MA, Leuzzi, V, Heales, S, Pope, S, Porta, F, Garcia-Cazorla, A, Honzik, T, Pons, R, Regal, L, Goez, H, Artuch, R, Hoffmann, GF, Horvath, G, Thony, B, Scholl-Burgi, S, Burlina, A, Verbeek, MM, Mastrangelo, M, Friedman, J, Wassenberg, T, Jeltsch, K, Kulhanek, J and Hubschmann, OK
Publicada:
26 may 2020
Ahead of Print:
26 may 2020
Resumen:
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.
Filiaciones:
Opladen, T:
Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany
Lopez-Laso, E:
Univ Hosp Reina Sofia, IMIBIC, Dept Pediat, Pediat Neurol Unit, Cordoba, Spain
CIBERER, Cordoba, Spain
:
Inst Recerca St Joan Deu, Inborn Errors Metab Unit, Barcelona, Spain
CIBERER ISCIII, Barcelona, Spain
Univ Autonoma Barcelona, Hosp Germans Trias & Pujol, Dept Pediat, Unit Pediat Neurol & Metab Disorders, Badalona, Spain
Univ Autonoma Barcelona, Fac Med, Badalona, Spain
Pearson, TS:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA
Sivri, HS:
Hacettepe Univ, Fac Med, Dept Pediat, Metab Sect, TR-06100 Ankara, Turkey
Yildiz, Y:
Hacettepe Univ, Fac Med, Dept Pediat, Metab Sect, TR-06100 Ankara, Turkey
Assmann, B:
Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany
Kurian, MA:
UCL Great Ormond St Inst Child Hlth, Dev Neurosci, London, England
Great Ormond St Hosp Sick Children, Dept Neurol, London, England
Leuzzi, V:
Sapienza Univ Rome, Dept Human Neurosci, Unit Child Neurol & Psychiat, Rome, Italy
Heales, S:
Natl Hosp, Neurometab Unit, Queen Sq, London, England
Pope, S:
Natl Hosp, Neurometab Unit, Queen Sq, London, England
Porta, F:
AOU Citta Salute & Sci, Dept Pediat, Turin, Italy
Garcia-Cazorla, A:
Inst Recerca St Joan Deu, Inborn Errors Metab Unit, Barcelona, Spain
CIBERER ISCIII, Barcelona, Spain
Honzik, T:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic
Pons, R:
Univ Athens, Aghia Sofia Hosp, Dept Pediat 1, Athens, Greece
Regal, L:
UZ Brussel, Dept Pediat, Pediat Neurol & Metab Unit, Brussels, Belgium
Goez, H:
Univ Alberta, Glenrose Rehabil Hosp, Dept Pediat, Edmonton, AB, Canada
Artuch, R:
CIBERER, Inst Recerca St Joan de Deu, Dept Clin Biochem, Barcelona, Spain
MetabERN Hosp St Joan de Deu, Barcelona, Spain
Hoffmann, GF:
Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany
Horvath, G:
Univ British Columbia, Div Biochem Genet, BC Childrens Hosp, Dept Pediat, Vancouver, BC, Canada
Thony, B:
Univ Childrens Hosp Zurich, Div Metab, Zurich, Switzerland
Scholl-Burgi, S:
Med Univ Innsbruck, Clin Pediat 1, Anichstr 35, Innsbruck, Austria
Burlina, A:
Azienda Osped Univ Padova, Dipartimento Salute Donna & Bambino, UOC Malattie Metabol Ereditarie, Campus Biomed Pietro Abano, Padua, Italy
Verbeek, MM:
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Alzheimer Ctr,Med Ctr, Nijmegen, Netherlands
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Lab Med, Alzheimer Ctr,Med Ctr, Nijmegen, Netherlands
Mastrangelo, M:
Sapienza Univ Rome, Dept Human Neurosci, Unit Child Neurol & Psychiat, Rome, Italy
Friedman, J:
Rady Childrens Hosp, Div Neurol, UCSD Dept Neurosci, San Diego, CA USA
Rady Childrens Hosp, Div Neurol, UCSD Dept Pediat, San Diego, CA USA
Rady Childrens Inst Genom Med, San Diego, CA USA
Wassenberg, T:
UZ Brussel, Dept Pediat, Pediat Neurol & Metab Unit, Brussels, Belgium
Jeltsch, K:
Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany
Kulhanek, J:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic
Hubschmann, OK:
Univ Childrens Hosp, Div Child Neurol & Metab Disorders, Heidelberg, Germany
Green Accepted, Green Published, gold
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