eprintid: 22508
rev_number: 11
eprint_status: archive
userid: 1589
dir: disk0/00/02/25/08
datestamp: 2017-01-27 08:30:56
lastmod: 2024-03-11 05:23:10
status_changed: 2017-01-27 08:30:56
type: article
metadata_visibility: show
creators_name: Wassenberg, Tessa
creators_name: Molero-Luis, Marta
creators_name: Jeltsch, Kathrin
creators_name: Hoffmann, Georg F.
creators_name: Assmann, Birgit
creators_name: Blau, Nenad
creators_name: Garcia-Cazorla, Angeles
creators_name: Artuch, Rafael
creators_name: Pons, Roser
creators_name: Pearson, Toni S.
creators_name: Leuzzi, Vincenco
creators_name: Mastrangelo, Mario
creators_name: Pearl, Phillip L.
creators_name: Lee, Wang Tso
creators_name: Kurian, Manju A.
creators_name: Heales, Simon
creators_name: Flint, Lisa
creators_name: Verbeek, Marcel
creators_name: Willemsen, Michèl
creators_name: Opladen, Thomas
title: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
subjects: ddc-610
divisions: i-910500
abstract: 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.
date: 2017
publisher: BioMed Central
id_scheme: DOI
ppn_swb: 1656185717
own_urn: urn:nbn:de:bsz:16-heidok-225085
language: eng
bibsort: WASSENBERGCONSENSUSG2017
full_text_status: public
publication: Orphanet Journal of Rare Diseases
volume: 12
number: 12
place_of_pub: London
pagerange: 1-21
issn: 1750-1172
citation:   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     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/22508/1/13023_2016_Article_522.pdf