We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
- Authors
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.; Wang Tso Lee; Kurian, Manju A.; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas
- 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.
- Subjects
AROMATIC amino acid decarboxylases; NEUROTRANSMITTERS; ELECTROENCEPHALOGRAPHY; DOPAMINE; SEROTONIN; MONOAMINE oxidase inhibitors; VITAMIN B complex; DOPAMINE agonists; PARASYMPATHOMIMETIC agents; AGE factors in disease; ENZYMES; AMINO acid metabolism disorders; MEDICAL protocols; PROLACTIN; RESEARCH funding; SYSTEMATIC reviews; DIAGNOSIS; THERAPEUTICS; VITAMIN therapy
- Publication
Orphanet Journal of Rare Diseases, 2017, Vol 12, p1
- ISSN
1750-1172
- Publication type
journal article
- DOI
10.1186/s13023-016-0522-z