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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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. |
format | Online Article Text |
id | pubmed-5241937 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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