Prevalence of AADC Deficiency

Researchers don’t know the exact prevalence (how common a disease is among a population) of aromatic l-amino acid decarboxylase (AADC) deficiency. However, they have conducted several studies in an attempt to estimate it. These studies screened for the disease in several countries around the world. Estimates of AADC deficiency…

Oculogyric Crises in AADC Deficiency

One of the symptoms of aromatic L‐amino acid decarboxylase (AADC) deficiency are oculogyric crises, which can be frightening for patients and their parents and caregivers. What happens in an oculogyric crisis? An oculogyric crisis occurs when the muscles of the eye spasm, sometimes during seizures. Patients…

Clinical Trials and AADC Deficiency

There have been only about 100 cases of aromatic L-amino acid decarboxylase (AADC) deficiency described in the medical literature. It is very difficult to develop effective treatments when the patient population is so small. But one way patients can help with research into new treatments is to participate…

AADC Activity Can Be Assessed with High Resolution FMT-PET, Study Shows

Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC) can be assessed through a high-resolution imaging technology called FMT-PET, a new study has confirmed. The study also showed that measuring changes in AADC activity in the brain by FMT-PET — an abbreviation for 6-fluoro-meta-tyrosine positron emission tomography —…