TY - JOUR
T1 - Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
AU - Opladen, Thomas
AU - López-Laso, Eduardo
AU - Cortès-Saladelafont, Elisenda
AU - Pearson, Toni S.
AU - Sivri, H. Serap
AU - Yildiz, Yilmaz
AU - Assmann, Birgit
AU - Kurian, Manju A.
AU - Leuzzi, Vincenzo
AU - Heales, Simon
AU - Pope, Simon
AU - Porta, Francesco
AU - García-Cazorla, Angeles
AU - Honzík, Tomáš
AU - Pons, Roser
AU - Regal, Luc
AU - Goez, Helly
AU - Artuch, Rafael
AU - Hoffmann, Georg F.
AU - Horvath, Gabriella
AU - Thöny, Beat
AU - Scholl-Bürgi, Sabine
AU - Burlina, Alberto
AU - Verbeek, Marcel M.
AU - Mastrangelo, Mario
AU - Friedman, Jennifer
AU - Wassenberg, Tessa
AU - Jeltsch, Kathrin
AU - Kulhánek, Jan
AU - Kuseyri Hübschmann, Oya
N1 - Publisher Copyright:
© 2020 The Author(s).
PY - 2020/5/26
Y1 - 2020/5/26
N2 - 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.
AB - 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.
KW - 6-pyruvoyltetrahydropterin synthase deficiency
KW - BH
KW - Consensus guidelines
KW - Dihydropteridine reductase deficiency
KW - Guanosine triphosphate cyclohydrolase deficiency
KW - Hyperphenylalaninemia
KW - Neurotransmitter
KW - SIGN
KW - Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency
KW - Tetrahydrobiopterin deficiency
KW - iNTD
UR - http://www.scopus.com/inward/record.url?scp=85085540040&partnerID=8YFLogxK
U2 - 10.1186/s13023-020-01379-8
DO - 10.1186/s13023-020-01379-8
M3 - Review article
C2 - 32456656
AN - SCOPUS:85085540040
SN - 1750-1172
VL - 15
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 126
ER -