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: 28 Feb 2013

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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: 28 Feb 2013

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General Support Organizations

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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 3 free, full-text research articles on human participants. First 3 results:

S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
 

Author(s): Riccardo Montioli, Elisa Oppici, Barbara Cellini, Alessandro Roncador, Mirco Dindo, Carla Borri Voltattorni

Journal: Hum. Mol. Genet.. 2013 Apr;22(8):1615-24.

 

Dopa or aromatic amino acid decarboxylase (DDC, AADC) is a pyridoxal 5'-phosphate-dependent enzyme that catalyses the production of the neurotransmitters dopamine and serotonin. Among the so far identified mutations associated with AADC deficiency, an inherited rare neurometabolic ...

Last Updated: 25 Mar 2013

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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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Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.
 

Author(s): K Hyland, P T Clayton

Journal: Clin. Chem.. 1992 Dec;38(12):2405-10.

 

Aromatic L-amino acid decarboxylase (EC. 4.1.1.28) deficiency is a newly described inborn error of metabolism that affects serotonin and dopamine biosynthesis. The major biochemical markers for this disease are increases of L-dopa, 3-methoxytyrosine, and 5-hydroxytryptophan in urine, ...

Last Updated: 14 Jan 1993

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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

There are currently no open clinical trials for this condition.