RT Journal Article
T1 Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
A1 Opladen, Thomas
A1 López-Laso, Eduardo
A1 Cortès-Saladelafont, Elisenda
A1 Pearson, Toni S.
A1 Sivri, H. Serap
A1 Yildiz, Yilmaz
A1 Assmann, Birgit
A1 Kurian, Manju A.
A1 Leuzzi, Vincenzo
A1 Heales, Simon
A1 Pope, Simon
A1 Porta, Francesco
A1 García-Cazorla, Angeles
A1 Honzík, Tomás
A1 Pons, Roser
A1 Regal, Luc
A1 Goez, Helly
A1 Artuch, Rafael
A1 Hoffmann, Georg F.
A1 Horvath, Gabriella
A1 Thöny, Beat
A1 Scholl-Bürgi, Sabine
A1 Burlina, Alberto
A1 Verbeek, Marcel M.
A1 Mastrangelo, Mario
A1 Friedman, Jennifer
A1 Wassenberg, Tessa
A1 Jeltsch, Kathrin
A1 Kulhánek, Jan
A1 Kuseyri Hübschmann, Oya
K1 Tetrahydrobiopterin deficiency
K1 BH4
K1 Neurotransmitter
K1 Guanosine triphosphate cyclohydrolase deficiency
K1 6- pyruvoyltetrahydropterin synthase deficiency
K1 Sepiapterin reductase deficiency
K1 Pterin-4-alpha-carbinolamine dehydratase deficiency
K1 Dihydropteridine reductase deficiency
K1 Hyperphenylalaninemia
K1 iNTD
K1 Consensus guidelines
K1 SIGN
K1 Fenilcetonurias
K1 Neurotransmisores
K1 Consenso
K1 Guía
AB 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 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.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 BH4 deficient patients.
PB BioMed Central, Springer Nature
YR 2020
FD 2020-05-26
LK http://hdl.handle.net/10668/3820
UL http://hdl.handle.net/10668/3820
LA en
NO Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, et al. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis. 2020 May 26;15(1):126
DS RISalud
RD Apr 9, 2025