Two sisters with unusually mild cases of aromatic L-amino acid decarboxylase (AADC) deficiency were described in a recent report.
Articles by Marisa Horak, MS
To bring attention to the rare disease aromatic L-amino acid decarboxylase deficiency, the second annual AADC Deficiency Awareness Day will…
An upcoming fundraising weekend in Los Angeles, dubbed the Ultra Rare Celebrity Jam, will feature a chance to hear…
Analyzing levels of certain organic acids in the urine can be a useful first step in diagnosing aromatic L-amino…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for…
Children with aromatic l-amino acid decarboxylase (AADC) deficiency experience a wide range of symptoms and difficulties in day-to-day activities,…
Recently-characterized mutations that have been associated with mild AADC deficiency cause some alterations to the AADC protein, but do…
A viral vector-delivered gene therapy can restore the activity of the AADC enzyme in people with AADC deficiency for…
The investigational gene therapy PTC-AADC improved motor function in children with aromatic l-amino acid decarboxylase (AADC) deficiency in…
Researchers have developed a patient-derived cell model of aromatic l-amino acid decarboxylase (AADC) deficiency that could provide important insights…