title: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
creator: Wassenberg, Tessa
creator: Molero-Luis, Marta
creator: Jeltsch, Kathrin
creator: Hoffmann, Georg F.
creator: Assmann, Birgit
creator: Blau, Nenad
creator: Garcia-Cazorla, Angeles
creator: Artuch, Rafael
creator: Pons, Roser
creator: Pearson, Toni S.
creator: Leuzzi, Vincenco
creator: Mastrangelo, Mario
creator: Pearl, Phillip L.
creator: Lee, Wang Tso
creator: Kurian, Manju A.
creator: Heales, Simon
creator: Flint, Lisa
creator: Verbeek, Marcel
creator: Willemsen, Michèl
creator: Opladen, Thomas
subject: ddc-610
subject: 610 Medical sciences Medicine
description: Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms. In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology. In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. Furthermore, we identified topics for further research. We believe this guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease.
publisher: BioMed Central
date: 2017
type: Article
type: info:eu-repo/semantics/article
type: NonPeerReviewed
format: application/pdf
identifier: https://archiv.ub.uni-heidelberg.de/volltextserver/22508/1/13023_2016_Article_522.pdf
identifier: DOI:
identifier: urn:nbn:de:bsz:16-heidok-225085
identifier:   Wassenberg, Tessa ; Molero-Luis, Marta ; Jeltsch, Kathrin ; Hoffmann, Georg F. ; Assmann, Birgit ; Blau, Nenad ; Garcia-Cazorla, Angeles ; Artuch, Rafael ; Pons, Roser ; Pearson, Toni S. ; Leuzzi, Vincenco ; Mastrangelo, Mario ; Pearl, Phillip L. ; Lee, Wang Tso ; Kurian, Manju A. ; Heales, Simon ; Flint, Lisa ; Verbeek, Marcel ; Willemsen, Michèl ; Opladen, Thomas  (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.  Orphanet Journal of Rare Diseases, 12 (12).  pp. 1-21.  ISSN 1750-1172     
relation: https://archiv.ub.uni-heidelberg.de/volltextserver/22508/
rights: info:eu-repo/semantics/openAccess
rights: Please see front page of the work (Sorry, Dublin Core plugin does not recognise license id)
language: eng