Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

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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
Lee, Wang Tso
Kurian, Manju A.
Heales, Simon
Flint, Lisa
Verbeek, Marcel
Willemsen, Michèl
Opladen, Thomas
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1186/s13023-016-0522-zMetadata
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Wassenberg, T., M. Molero-Luis, K. Jeltsch, G. F. Hoffmann, B. Assmann, N. Blau, A. Garcia-Cazorla, et al. 2017. “Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.” Orphanet Journal of Rare Diseases 12 (1): 12. doi:10.1186/s13023-016-0522-z. http://dx.doi.org/10.1186/s13023-016-0522-z.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. Electronic supplementary material The online version of this article (doi:10.1186/s13023-016-0522-z) contains supplementary material, which is available to authorized users.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241937/pdf/Terms of Use
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