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

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 disorder...
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Autor*in:	Wassenberg, Tessa [verfasserIn] 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

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	Aromatic l-amino acid decarboxylase deficiency AADC deficiency Neurotransmitter Dopamine Serotonin Guideline Infantile dystonia-parkinsonism SIGN GRADE

Anmerkung:	© The Author(s). 2016

Übergeordnetes Werk:	Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 12(2017), 1 vom: 18. Jan.
Übergeordnetes Werk:	volume:12 ; year:2017 ; number:1 ; day:18 ; month:01

Links:	Volltext

DOI / URN:	10.1186/s13023-016-0522-z

Katalog-ID:	SPR029496969

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allfields	10.1186/s13023-016-0522-z doi (DE-627)SPR029496969 (SPR)s13023-016-0522-z-e DE-627 ger DE-627 rakwb eng Wassenberg, Tessa verfasserin aut Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 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. Aromatic l-amino acid decarboxylase deficiency (dpeaa)DE-He213 AADC deficiency (dpeaa)DE-He213 Neurotransmitter (dpeaa)DE-He213 Dopamine (dpeaa)DE-He213 Serotonin (dpeaa)DE-He213 Guideline (dpeaa)DE-He213 Infantile dystonia-parkinsonism (dpeaa)DE-He213 SIGN (dpeaa)DE-He213 GRADE (dpeaa)DE-He213 Molero-Luis, Marta aut Jeltsch, Kathrin aut Hoffmann, Georg F. aut Assmann, Birgit aut Blau, Nenad aut Garcia-Cazorla, Angeles aut Artuch, Rafael aut Pons, Roser aut Pearson, Toni S. aut Leuzzi, Vincenco aut Mastrangelo, Mario aut Pearl, Phillip L. aut Lee, Wang Tso aut Kurian, Manju A. aut Heales, Simon aut Flint, Lisa aut Verbeek, Marcel aut Willemsen, Michèl aut Opladen, Thomas aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 12(2017), 1 vom: 18. Jan. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:12 year:2017 number:1 day:18 month:01 https://dx.doi.org/10.1186/s13023-016-0522-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2017 1 18 01
spelling	10.1186/s13023-016-0522-z doi (DE-627)SPR029496969 (SPR)s13023-016-0522-z-e DE-627 ger DE-627 rakwb eng Wassenberg, Tessa verfasserin aut Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 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. Aromatic l-amino acid decarboxylase deficiency (dpeaa)DE-He213 AADC deficiency (dpeaa)DE-He213 Neurotransmitter (dpeaa)DE-He213 Dopamine (dpeaa)DE-He213 Serotonin (dpeaa)DE-He213 Guideline (dpeaa)DE-He213 Infantile dystonia-parkinsonism (dpeaa)DE-He213 SIGN (dpeaa)DE-He213 GRADE (dpeaa)DE-He213 Molero-Luis, Marta aut Jeltsch, Kathrin aut Hoffmann, Georg F. aut Assmann, Birgit aut Blau, Nenad aut Garcia-Cazorla, Angeles aut Artuch, Rafael aut Pons, Roser aut Pearson, Toni S. aut Leuzzi, Vincenco aut Mastrangelo, Mario aut Pearl, Phillip L. aut Lee, Wang Tso aut Kurian, Manju A. aut Heales, Simon aut Flint, Lisa aut Verbeek, Marcel aut Willemsen, Michèl aut Opladen, Thomas aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 12(2017), 1 vom: 18. Jan. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:12 year:2017 number:1 day:18 month:01 https://dx.doi.org/10.1186/s13023-016-0522-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2017 1 18 01
allfields_unstemmed	10.1186/s13023-016-0522-z doi (DE-627)SPR029496969 (SPR)s13023-016-0522-z-e DE-627 ger DE-627 rakwb eng Wassenberg, Tessa verfasserin aut Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 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. Aromatic l-amino acid decarboxylase deficiency (dpeaa)DE-He213 AADC deficiency (dpeaa)DE-He213 Neurotransmitter (dpeaa)DE-He213 Dopamine (dpeaa)DE-He213 Serotonin (dpeaa)DE-He213 Guideline (dpeaa)DE-He213 Infantile dystonia-parkinsonism (dpeaa)DE-He213 SIGN (dpeaa)DE-He213 GRADE (dpeaa)DE-He213 Molero-Luis, Marta aut Jeltsch, Kathrin aut Hoffmann, Georg F. aut Assmann, Birgit aut Blau, Nenad aut Garcia-Cazorla, Angeles aut Artuch, Rafael aut Pons, Roser aut Pearson, Toni S. aut Leuzzi, Vincenco aut Mastrangelo, Mario aut Pearl, Phillip L. aut Lee, Wang Tso aut Kurian, Manju A. aut Heales, Simon aut Flint, Lisa aut Verbeek, Marcel aut Willemsen, Michèl aut Opladen, Thomas aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 12(2017), 1 vom: 18. Jan. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:12 year:2017 number:1 day:18 month:01 https://dx.doi.org/10.1186/s13023-016-0522-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2017 1 18 01
allfieldsGer	10.1186/s13023-016-0522-z doi (DE-627)SPR029496969 (SPR)s13023-016-0522-z-e DE-627 ger DE-627 rakwb eng Wassenberg, Tessa verfasserin aut Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 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. Aromatic l-amino acid decarboxylase deficiency (dpeaa)DE-He213 AADC deficiency (dpeaa)DE-He213 Neurotransmitter (dpeaa)DE-He213 Dopamine (dpeaa)DE-He213 Serotonin (dpeaa)DE-He213 Guideline (dpeaa)DE-He213 Infantile dystonia-parkinsonism (dpeaa)DE-He213 SIGN (dpeaa)DE-He213 GRADE (dpeaa)DE-He213 Molero-Luis, Marta aut Jeltsch, Kathrin aut Hoffmann, Georg F. aut Assmann, Birgit aut Blau, Nenad aut Garcia-Cazorla, Angeles aut Artuch, Rafael aut Pons, Roser aut Pearson, Toni S. aut Leuzzi, Vincenco aut Mastrangelo, Mario aut Pearl, Phillip L. aut Lee, Wang Tso aut Kurian, Manju A. aut Heales, Simon aut Flint, Lisa aut Verbeek, Marcel aut Willemsen, Michèl aut Opladen, Thomas aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 12(2017), 1 vom: 18. Jan. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:12 year:2017 number:1 day:18 month:01 https://dx.doi.org/10.1186/s13023-016-0522-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2017 1 18 01
allfieldsSound	10.1186/s13023-016-0522-z doi (DE-627)SPR029496969 (SPR)s13023-016-0522-z-e DE-627 ger DE-627 rakwb eng Wassenberg, Tessa verfasserin aut Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 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. Aromatic l-amino acid decarboxylase deficiency (dpeaa)DE-He213 AADC deficiency (dpeaa)DE-He213 Neurotransmitter (dpeaa)DE-He213 Dopamine (dpeaa)DE-He213 Serotonin (dpeaa)DE-He213 Guideline (dpeaa)DE-He213 Infantile dystonia-parkinsonism (dpeaa)DE-He213 SIGN (dpeaa)DE-He213 GRADE (dpeaa)DE-He213 Molero-Luis, Marta aut Jeltsch, Kathrin aut Hoffmann, Georg F. aut Assmann, Birgit aut Blau, Nenad aut Garcia-Cazorla, Angeles aut Artuch, Rafael aut Pons, Roser aut Pearson, Toni S. aut Leuzzi, Vincenco aut Mastrangelo, Mario aut Pearl, Phillip L. aut Lee, Wang Tso aut Kurian, Manju A. aut Heales, Simon aut Flint, Lisa aut Verbeek, Marcel aut Willemsen, Michèl aut Opladen, Thomas aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 12(2017), 1 vom: 18. Jan. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:12 year:2017 number:1 day:18 month:01 https://dx.doi.org/10.1186/s13023-016-0522-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2017 1 18 01
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source	Enthalten in Orphanet journal of rare diseases 12(2017), 1 vom: 18. Jan. volume:12 year:2017 number:1 day:18 month:01
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topic_facet	Aromatic l-amino acid decarboxylase deficiency AADC deficiency Neurotransmitter Dopamine Serotonin Guideline Infantile dystonia-parkinsonism SIGN GRADE
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author	Wassenberg, Tessa
spellingShingle	Wassenberg, Tessa misc Aromatic l-amino acid decarboxylase deficiency misc AADC deficiency misc Neurotransmitter misc Dopamine misc Serotonin misc Guideline misc Infantile dystonia-parkinsonism misc SIGN misc GRADE Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
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topic_title	Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency Aromatic l-amino acid decarboxylase deficiency (dpeaa)DE-He213 AADC deficiency (dpeaa)DE-He213 Neurotransmitter (dpeaa)DE-He213 Dopamine (dpeaa)DE-He213 Serotonin (dpeaa)DE-He213 Guideline (dpeaa)DE-He213 Infantile dystonia-parkinsonism (dpeaa)DE-He213 SIGN (dpeaa)DE-He213 GRADE (dpeaa)DE-He213
topic	misc Aromatic l-amino acid decarboxylase deficiency misc AADC deficiency misc Neurotransmitter misc Dopamine misc Serotonin misc Guideline misc Infantile dystonia-parkinsonism misc SIGN misc GRADE
topic_unstemmed	misc Aromatic l-amino acid decarboxylase deficiency misc AADC deficiency misc Neurotransmitter misc Dopamine misc Serotonin misc Guideline misc Infantile dystonia-parkinsonism misc SIGN misc GRADE
topic_browse	misc Aromatic l-amino acid decarboxylase deficiency misc AADC deficiency misc Neurotransmitter misc Dopamine misc Serotonin misc Guideline misc Infantile dystonia-parkinsonism misc SIGN misc GRADE
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title	Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
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title_full	Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
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author_browse	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
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title_sort	consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (aadc) deficiency
title_auth	Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
abstract	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. © The Author(s). 2016
abstractGer	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. © The Author(s). 2016
abstract_unstemmed	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. © The Author(s). 2016
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title_short	Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
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up_date	2024-07-04T01:13:14.426Z
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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. 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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

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