Author Archives: Marisa Wexler MS

Report Describes Sisters With Very Mild AADC Deficiency

Two sisters with unusually mild cases of aromatic L-amino acid decarboxylase (AADC) deficiency were described in a recent report. “Our patients may show the most attenuated [mild] type of AADC deficiency. This indicates the importance of ruling out the possibility of AADC deficiency in patients who present with similar…

Take Part in AADC Deficiency Awareness Day 2021

To bring attention to the rare disease aromatic L-amino acid decarboxylase deficiency, the second annual AADC Deficiency Awareness Day will be observed Friday, Oct. 22. The event is a collaboration among the AADC Family Network, PTC Therapeutics, MassBio (a Massachusetts-based healthcare nonprofit), and Boston Children’s Hospital. In…

Caregivers of Children With AADC Deficiency Share Daily Experiences

Children with aromatic l-amino acid decarboxylase (AADC) deficiency experience a wide range of symptoms and difficulties in day-to-day activities, which can have substantial affects on their quality of life, a study based on interviews with caregivers reported. This is the first published scientific study to explore the qualitative experience…