Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH&lt;sub&gt;4&lt;/sub&gt;) deficiencies.

T, Opladen; E, López-Laso; E, Cortès-Saladelafont; TS, Pearson; HS, Sivri; Y, Yildiz; B, Assmann; MA, Kurian; V, Leuzzi; S, Heales; S, Pope; F, Porta; A, García-Cazorla; T, Honzík; R, Pons; L, Regal; H, Goez; R, Artuch; GF, Hoffmann; G, Horvath; B, Thöny; S, Scholl-Bürgi; A, Burlina; MM, Verbeek; M, Mastrangelo; J, Friedman; T, Wassenberg; K, Jeltsch; J, Kulhánek; Hübschmann O, Kuseyri

doi:10.1186/s13023-020-01379-8

Public

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies.

Shared by NobleBlocks on May 26, 2020 • 12:00 AM UTC

Authors:

Opladen T

López-Laso E

Cortès-Saladelafont E

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 first di...

Subject

Neurotransmitter

Sign

Bh4

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