Learn About Aromatic L-Amino Acid Decarboxylase Deficiency

What is the definition of Aromatic L-Amino Acid Decarboxylase Deficiency?

Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.

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What are the causes of Aromatic L-Amino Acid Decarboxylase Deficiency?

Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signals between nerve cells, both in the brain and spinal cord (central nervous system) and in other parts of the body (peripheral nervous system).

How prevalent is Aromatic L-Amino Acid Decarboxylase Deficiency?

AADC deficiency is a rare disorder. Only about 100 people with this condition have been described in the medical literature worldwide; about 20 percent of these individuals are from Taiwan.

Is Aromatic L-Amino Acid Decarboxylase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Aromatic L-Amino Acid Decarboxylase Deficiency Local Doctors?
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Highly rated in
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National Taiwan University Hospital

TPQ, TW 10022

Wuh-liang Hwu is in Taiwan. Hwu is rated as an Elite expert by MediFind in the treatment of Aromatic L-Amino Acid Decarboxylase Deficiency. They are also highly rated in 26 other conditions, according to our data. Their top areas of expertise are Aromatic L-Amino Acid Decarboxylase Deficiency, Pompe Disease, Inborn Amino Acid Metabolism Disorder, and Mucopolysaccharidosis Type 6.

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Highly rated in
6
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University Of Verona

Verona, IT 37134

Riccardo Montioli is in Verona, Italy. Montioli is rated as an Elite expert by MediFind in the treatment of Aromatic L-Amino Acid Decarboxylase Deficiency. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Aromatic L-Amino Acid Decarboxylase Deficiency, Gyrate Atrophy of the Choroid and Retina, Primary Hyperoxaluria Type 1, and Primary Hyperoxaluria.

 
 
 
 
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Elite
Highly rated in
13
conditions

National Taiwan University Hospital

TPQ, TW 

Ni-chung Lee is in Taiwan. Lee is rated as an Elite expert by MediFind in the treatment of Aromatic L-Amino Acid Decarboxylase Deficiency. They are also highly rated in 13 other conditions, according to our data. Their top areas of expertise are Aromatic L-Amino Acid Decarboxylase Deficiency, Pompe Disease, Inborn Amino Acid Metabolism Disorder, and Down Syndrome.

What are the latest Aromatic L-Amino Acid Decarboxylase Deficiency Clinical Trials?
A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC
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Who are the sources who wrote this article ?

Published Date:updated Last, May

Published By: National Institutes of Health

What are the Latest Advances for Aromatic L-Amino Acid Decarboxylase Deficiency?
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
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