Most rare disease experts are in favor of using DNA sequencing to screen newborns for AADC deficiency and other…
Articles by Marisa Wexler, MS
Children with aromatic L-amino acid decarboxylase (AADC) deficiency are continuing to experience motor function gains up to 10 years…
The case of a girl with unexplained seizures in whom an epilepsy gene panel screening was the key toward a…
IndoUSrare, a U.S.-based humanitarian organization, is working to build international connections between scientists to accelerate research that aims to…
A new mutation in the DDC gene was identified as the cause of aromatic L-amino acid decarboxylase (AADC) deficiency in a…
People with AACD deficiency commonly experience emotional problems and intellectual disability, though the severity of cognitive impairment varies markedly…
Scientists have discovered a new technique to measure the activity of the aromatic-L-amino acid decarboxylase (AADC) enzyme to help diagnose…
Note: This story was updated on July 21, 2022, to note PTC is planning to request FDA approval of Upstaza.
Aromatic l-amino acid decarboxylase (AADC) deficiency has a significant negative effect on patients, their families, and the healthcare system,…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health…