TY - JOUR
T1 - Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
AU - Wassenberg, Tessa
AU - Molero-Luis, Marta
AU - Jeltsch, Kathrin
AU - Hoffmann, Georg F.
AU - Assmann, Birgit
AU - Blau, Nenad
AU - Garcia-Cazorla, Angeles
AU - Artuch, Rafael
AU - Pons, Roser
AU - Pearson, Toni S.
AU - Leuzzi, Vincenco
AU - Mastrangelo, Mario
AU - Pearl, Phillip L.
AU - Lee, Wang Tso
AU - Kurian, Manju A.
AU - Heales, Simon
AU - Flint, Lisa
AU - Verbeek, Marcel
AU - Willemsen, Michèl
AU - Opladen, Thomas
N1 - Publisher Copyright:
© 2016 The Author(s).
PY - 2017/1/18
Y1 - 2017/1/18
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.
AB - 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.
KW - AADC deficiency
KW - Aromatic l-amino acid decarboxylase deficiency
KW - Dopamine
KW - GRADE
KW - Guideline
KW - Infantile dystonia-parkinsonism
KW - Neurotransmitter
KW - SIGN
KW - Serotonin
UR - http://www.scopus.com/inward/record.url?scp=85009814696&partnerID=8YFLogxK
U2 - 10.1186/s13023-016-0522-z
DO - 10.1186/s13023-016-0522-z
M3 - Review article
C2 - 28100251
AN - SCOPUS:85009814696
SN - 1750-1172
VL - 12
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 12
ER -