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Aromatic L-Amino Acid Decarboxylase Deficiency - Video

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General Discussion


Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic disorder characterized by decreased activity of aromatic l-amino acid decarboxylase, an enzyme involved in the building (synthesis) of neurotransmitters (dopamine and serotonin), which are responsible for the communication between neurons in the nervous system. Although affected individuals can appear normal at birth, most will develop symptoms during the first months of life. AADC deficiency most commonly leads to decreased muscle tone (hypotonia), movement disorders including abnormal eyes movement (oculogyric crises), developmental delay, restricted growth (failure to thrive), and disruption of the part of the nervous system responsible for unconscious modulation of body functions such as heartbeat (autonomic nervous system). Medication is available to manage the symptoms, but response to treatment greatly varies among affected individuals, and an optimal treatment regimen can be difficult to achieve. There is currently no cure for the disease, but gene therapy has shown potential to improve symptoms in clinical trials.

Synonyms of Aromatic L-Amino Acid Decarboxylase Deficiency

  • aromatic amino acid decarboxylase deficiency
  • AADC deficiency
  • DOPA decarboxylase deficiency
  • DDC deficiency

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