News

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…

PTC Study Shows Profound Effects of AADC on Caregivers

Caregivers of children with aromatic l-amino acid decarboxylase (AADC) deficiency spend the bulk of their days providing care, with most needing additional help and having to quit their jobs or greatly reduce working hours, according to responses to a questionnaire developed by PTC Therapeutics. “As with so many rare…

Cerebrospinal Fluid Remains Best Diagnostic Method

Examining cerebrospinal fluid — the liquid surrounding the brain and spinal cord — remains the best way to diagnose aromatic L-amino acid decarboxylase (AADC) deficiency, a recent study confirms. The investigation also found that measuring treatment response by routinely re-examining this fluid appears unnecessary, and that certain molecules found…