Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Abstract 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...

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Bibliografiska uppgifter
Huvudupphovsmän: Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Materialtyp: Artikel
Språk:English
Publicerad: BMC 2020-05-01
Serie:Orphanet Journal of Rare Diseases
Ämnen:
Tetrahydrobiopterin deficiency
BH4
Neurotransmitter
Guanosine triphosphate cyclohydrolase deficiency
6-pyruvoyltetrahydropterin synthase deficiency
Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency
Länkar:http://link.springer.com/article/10.1186/s13023-020-01379-8

Internet

http://link.springer.com/article/10.1186/s13023-020-01379-8

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