TY  - JOUR
IS  - 12
ID  - heidok22508
EP  - 21
N2  - 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.
CY  - London
UR  - https://archiv.ub.uni-heidelberg.de/volltextserver/22508/
SN  - 1750-1172
TI  - Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
A1  - Wassenberg, Tessa
A1  - Molero-Luis, Marta
A1  - Jeltsch, Kathrin
A1  - Hoffmann, Georg F.
A1  - Assmann, Birgit
A1  - Blau, Nenad
A1  - Garcia-Cazorla, Angeles
A1  - Artuch, Rafael
A1  - Pons, Roser
A1  - Pearson, Toni S.
A1  - Leuzzi, Vincenco
A1  - Mastrangelo, Mario
A1  - Pearl, Phillip L.
A1  - Lee, Wang Tso
A1  - Kurian, Manju A.
A1  - Heales, Simon
A1  - Flint, Lisa
A1  - Verbeek, Marcel
A1  - Willemsen, Michèl
A1  - Opladen, Thomas
AV  - public
SP  - 1
PB  - BioMed Central
Y1  - 2017///
JF  - Orphanet Journal of Rare Diseases
VL  - 12
ER  -