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

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 (oculog...

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Autores principales: 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., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241937/
https://www.ncbi.nlm.nih.gov/pubmed/28100251
http://dx.doi.org/10.1186/s13023-016-0522-z
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author 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.
Lee, Wang Tso
Kurian, Manju A.
Heales, Simon
Flint, Lisa
Verbeek, Marcel
Willemsen, Michèl
Opladen, Thomas
author_facet 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.
Lee, Wang Tso
Kurian, Manju A.
Heales, Simon
Flint, Lisa
Verbeek, Marcel
Willemsen, Michèl
Opladen, Thomas
author_sort Wassenberg, Tessa
collection PubMed
description 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.
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spelling pubmed-52419372017-01-23 Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency 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. Lee, Wang Tso Kurian, Manju A. Heales, Simon Flint, Lisa Verbeek, Marcel Willemsen, Michèl Opladen, Thomas Orphanet J Rare Dis Review 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. BioMed Central 2017-01-18 /pmc/articles/PMC5241937/ /pubmed/28100251 http://dx.doi.org/10.1186/s13023-016-0522-z Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
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.
Lee, Wang Tso
Kurian, Manju A.
Heales, Simon
Flint, Lisa
Verbeek, Marcel
Willemsen, Michèl
Opladen, Thomas
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
title Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
title_full Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
title_fullStr Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
title_full_unstemmed Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
title_short Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
title_sort consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (aadc) deficiency
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241937/
https://www.ncbi.nlm.nih.gov/pubmed/28100251
http://dx.doi.org/10.1186/s13023-016-0522-z
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