Aromatic Amino Acid Decarboxylase Deficiency

Common Name(s)

Aromatic Amino Acid Decarboxylase Deficiency, Deficiency of aromatic-L-amino-acid decarboxylase, Aromatic L-Amino Acid Decarboxylase Deficiency

AADC deficiency is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency ({1:Abeling et al., 2000}). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by {3:Brun et al., 2010}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aromatic Amino Acid Decarboxylase Deficiency" for support, advocacy or research.

Pediatric Neurotransmitter Disease Association

Our mission is to help children and families who are affected by PNDs, support the identification of new PNDs, find better treatments and ultimately a cure for those diseases that are already known.

Last Updated: 27 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aromatic Amino Acid Decarboxylase Deficiency" for support, advocacy or research.

Pediatric Neurotransmitter Disease Association

Our mission is to help children and families who are affected by PNDs, support the identification of new PNDs, find better treatments and ultimately a cure for those diseases that are already known.

http://www.pndassoc.org

Last Updated: 27 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aromatic Amino Acid Decarboxylase Deficiency" returned 6 free, full-text research articles on human participants. First 3 results:

A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency.
 

Author(s): L K Lee, K M Cheung, W W Cheng, C H Ko, Hencher H C Lee, C K Ching, Chloe M Mak

Journal: Hong Kong Med J. 2014 Apr;20(2):161-4.

 

A 15-year-old Chinese male with infantile-onset hypotonia, developmental delay, ptosis, and oculogyric episodes presented with a history of chronic diarrhoea since the age of 5 years. At presentation, he had an exacerbation of diarrhoeal symptoms resulting in dehydration and malnutrition ...

Last Updated: 9 Apr 2014

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Gene therapy for aromatic L-amino acid decarboxylase deficiency.
 

Author(s): Wuh-Liang Hwu, Shin-ichi Muramatsu, Sheng-Hong Tseng, Kai-Yuan Tzen, Ni-Chung Lee, Yin-Hsiu Chien, Richard O Snyder, Barry J Byrne, Chun-Hwei Tai, Ruey-Meei Wu

Journal: Sci Transl Med. 2012 May;4(134):134ra61.

 

Aromatic L-amino acid decarboxylase (AADC) is required for the synthesis of the neurotransmitters dopamine and serotonin. Children with defects in the AADC gene show compromised development, particularly in motor function. Drug therapy has only marginal effects on some of the symptoms ...

Last Updated: 17 May 2012

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Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.
 

Author(s): Shou-Jen Kuo, Gwo-Chin Ma, Shun-Ping Chang, Hsin-Hung Wu, Chih-Ping Chen, Tung-Ming Chang, Wen-Hsiang Lin, Sheng-Hai Wu, Mei-Hui Lee, Wuh-Liang Hwu, Ming Chen

Journal: Taiwan J Obstet Gynecol. 2011 Dec;50(4):468-73.

 

To develop a diagnostic platform for preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND) to prevent births of aromatic L-amino acid decarboxylase deficiency (AADC) patients.

Last Updated: 3 Jan 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aromatic Amino Acid Decarboxylase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
 

Status: Recruiting

Condition Summary: Aromatic L-amino Acid Decarboxylase Deficiency

 

Last Updated: 11 Apr 2016

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A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion
 

Status: Recruiting

Condition Summary: Aromatic Amino Acid Decarboxylase Deficiency

 

Last Updated: 5 Oct 2016

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Last Updated: 4 Aug 2016

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