Health Insights

What is the iNTD and Its Patient Registry?

If your child has aromatic l-amino acid decarboxylase (AADC) deficiency, you may want to consider participating in the patient registry of the International Working Group on Neurotransmitter Related Disorders (iNTD). The group’s aim is to foster global exchange of clinical data, with the ultimate goal of improving…

Newborn Screening and AADC Deficiency

Newborn screening for aromatic L-amino acid decarboxylase (AADC) deficiency has been studied, but has not yet been not been implemented. This is due partly to a lack of availability and standardization of noninvasive testing methods. Still, innovative treatment options, particularly gene therapy, have underscored the importance…

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…

Anesthesia and AADC Deficiency

Medical procedures and tests sometimes require anesthesia, which can be especially challenging for patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disease characterized by reduced activity of the AADC enzyme. When there isn’t enough functional AADC enzyme, the body cannot make enough serotonin and…