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BioMed Central, Orphanet Journal of Rare Diseases, 1(12), 2017

DOI: 10.1186/s13023-016-0522-z

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

Journal article published in 2017 by Tessa Wassenberg ORCID, Marta Molero-Luis, Michèl Willemsen, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Vincenco Leuzzi, Toni S. Pearson, Mario Mastrangelo, Phillip L. Pearl, Wang Tso Lee and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.