dc.contributor.author |
Opladen, Thomas |
dc.contributor.author |
López-Laso, Eduardo |
dc.contributor.author |
Cortès-Saladelafont, Elisenda |
dc.contributor.author |
Pearson, Toni S. |
dc.contributor.author |
Sivri, H. Serap |
dc.contributor.author |
Yildiz, Yilmaz |
dc.contributor.author |
Assmann, Birgit |
dc.contributor.author |
Kurian, Manju A. |
dc.contributor.author |
Leuzzi, Vincenzo |
dc.contributor.author |
Heales, Simon |
dc.contributor.author |
Pope, Simon |
dc.contributor.author |
Porta, Francesco |
dc.contributor.author |
García-Cazorla, Angels |
dc.contributor.author |
Honzík, Tomáš |
dc.contributor.author |
Pons, Roser |
dc.contributor.author |
Regal, Luc |
dc.contributor.author |
Goez, Helly |
dc.contributor.author |
Artuch, R. |
dc.contributor.author |
Hoffmann, Georg F. |
dc.contributor.author |
Horvath, Gabriella |
dc.contributor.author |
Thöny, Beat |
dc.contributor.author |
Scholl-Bürgi, Sabine |
dc.contributor.author |
Burlina, Alberto |
dc.contributor.author |
Verbeek, Marcel M. |
dc.contributor.author |
Mastrangelo, Mario |
dc.contributor.author |
Friedman, Jennifer |
dc.contributor.author |
Wassenberg, Tessa |
dc.contributor.author |
Jeltsch, Kathrin |
dc.contributor.author |
Kulhánek, Jan |
dc.contributor.author |
Kuseyri Hübschmann, Oya |
dc.contributor.author |
Universitat Autònoma de Barcelona |
dc.date |
2020 |
dc.identifier |
https://ddd.uab.cat/record/227790 |
dc.identifier |
urn:10.1186/s13023-020-01379-8 |
dc.identifier |
urn:oai:ddd.uab.cat:227790 |
dc.identifier |
urn:pmid:32456656 |
dc.identifier |
urn:pmcid:PMC7251883 |
dc.identifier |
urn:pmc-uid:7251883 |
dc.identifier |
urn:oai:pubmedcentral.nih.gov:7251883 |
dc.format |
application/pdf |
dc.language |
eng |
dc.publisher |
|
dc.relation |
Orphanet Journal of Rare Diseases ; Vol. 15 (may 2020) |
dc.rights |
open access |
dc.rights |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. |
dc.rights |
https://creativecommons.org/licenses/by/4.0/ |
dc.subject |
Tetrahydrobiopterin deficiency |
dc.subject |
BH4 |
dc.subject |
CDihydropteridine reductase deficiency; |
dc.subject |
Neurotransmitter |
dc.subject |
Guanosine triphosphate cyclohydrolase deficiency |
dc.subject |
6-pyruvoyltetrahydropterin synthase deficiency |
dc.subject |
Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency |
dc.subject |
Dihydropteridine reductase deficiency |
dc.subject |
Hyperphenylalaninemia |
dc.subject |
INTD |
dc.subject |
Consensus guidelines |
dc.subject |
SIGN |
dc.title |
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies |
dc.type |
Article de revisió |
dc.type |
Article |
dc.description.abstract |
Tetrahydrobiopterin (BH) 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 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH 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 BH deficiencies. 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 BH deficient patients. |