203 top medical experts on Aromatic amino acid decarboxylase deficiency across 19 countries and 10 U.S. states, including 24 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Aromatic amino acid decarboxylase deficiency: A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations
  4. Synonyms: AADC deficiency Aromatic L-amino acid decarboxylase deficiency,  Aromatic L-amino acid decarboxylase deficiency,  Dopa decarboxylase deficiency


  

        

                    


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