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

behalf of the International Working Group on Neurotransmitter related Disorders (iNTD), on; Opladen, Thomas; López‐Laso, Eduardo; Cortès‐Saladelafont, Elisenda; S. Pearson, Toni; Sivri, Serap; Yıldız, Yılmaz; Assmann, Birgit; A. Kurian, Manju; Leuzzi, Vincenzo; Heales, Simon; Pope, Simon; Porta, Francesco; García‐Cazorla, Ángeles; Honzík, Tomáš; Pons, Roser; Régal, Luc; Goez, Helly; Artuch, Rafael; F. Hoffmann, Georg; Horváth, Gabriella; Thöny, Beat; Scholl‐Bürgi, Sabine; Burlina, Alberto; M. Verbeek, Marcel; Mastrangelo, Mario; Friedman, Jennifer; Wassenberg, Tessa; Jeltsch, Kathrin; Kulhánek, Jan; Kuseyri Hübschmann, Oya

doi:10.1186/s13023-020-01379-8

Public

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

Published in Orphanet Journal of Rare Diseases • May 26, 2020

Authors:

on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

Thomas Opladen

Eduardo López‐Laso

Abstract

Abstract Background Tetrahydrobiopterin (BH 4 ) 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 BH 4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is ...

Subject

Hyperphenylalaninemia

Tetrahydrobiopterin

Guideline

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