Author Archives: Marisa Wexler MS

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…

Genomic Database Screening Can Help Find People with Rare Diseases

Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid decarboxylase (AADC) deficiency or other rare diseases, a study suggests. The findings were shared in a poster (no. 087), “Identification of individuals with likely AADC deficiency based on DDC variation in…