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Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, inherited neurotransmitter disorder and a lifelong condition. It results in severe motor and autonomic dysfunction, developmental delay and premature death.1–3
AADC deficiency can manifest with a broad spectrum of symptoms, some of the most common being:1–3
In the published consensus guidelines:2
Patients of any gender, ethnic origin or geographic region can be affected by AADC deficiency and, without treatment, symptoms typically do not improve.1–4
AADC deficiency is an autosomal recessive condition affecting the dopa decarboxylase (DDC) gene, resulting in impaired activity of the AADC enzyme. AADC is involved in the production of several neurotransmitters – notably dopamine, serotonin, adrenaline and noradrenaline – the production of which is decreased in patients with AADC deficiency.2
This is also associated with an increase in metabolite concentrations of levodopa (L-Dopa), 3-O-Methyldopa (3-OMD) and 5-hydroxytryptophan (5-HTP), and a decrease in homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) concentrations.2
The severe combined imbalance of these metabolites in AADC deficiency causes the somatic and autonomic symptoms associated with the condition.2
Patients with this rare condition can easily be misdiagnosed.
Use the resources on this site to help to ensure that patients with AADC deficiency receive a timely, accurate diagnosis.
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This website is provided for healthcare professionals residing in the Middle East and Africa.
This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including Aromatic L-amino Acid Decarboxylase (AADC) deficiency.