Author Archives: Emily Malcolm, PhD

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that causes communication problems between nerve cells in the brain and the body. As a result, patients with the disease develop movement disorders among other symptoms. Many patients also experience seizures. Seizure diaries can help…

Doctors often recommend vitamin B6 (pyridoxine) as a treatment for aromatic L-amino acid decarboxylase (AADC) deficiency. Here are some frequently asked questions and answers about vitamin B6 treatment. What is vitamin B6? Vitamin B6 is a cofactor for many enzymes. This means that it acts…

If your child’s doctor suspects aromatic L-amino acid decarboxylase (AADC) deficiency, they may recommend a lumbar puncture (also called a spinal tap) to help diagnose the disease. Here is what to expect, and how to prepare for the procedure. What happens during a lumbar puncture? A lumbar puncture…

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…

Parents or caregivers of children with aromatic L-amino acid decarboxylase (AADC) deficiency may be wondering whether vaccines are safe for these patients. What are vaccines? A vaccine is a treatment that “trains” your immune system to produce antibodies against a disease without getting sick. Vaccines generally contain…

If you or a family member has a genetic disease like aromatic L-amino acid decarboxylase (AADC) deficiency, you might benefit from genetic counseling. What is genetic counseling? If you have AADC deficiency, genetic counseling can help you understand whether you are at risk of passing this disease to your children.

Genetic testing looks for changes in the genome — an organism’s complete set of DNA — that might indicate the presence of a genetic disease such as aromatic L-amino acid decarboxylase (AADC) deficiency. Genetics of AADC deficiency Mutations in a gene called dopa decarboxylase (DDC)…

If you know you are a carrier for aromatic L-amino acid decarboxylase (AADC) deficiency, you may have already spoken to a genetic counselor about your risks of passing the disease on to your children and your reproductive options. Carriers of a genetic disease have a single copy…

If you have a child with aromatic L-amino acid decarboxylase (AADC) deficiency, you may be worried about the risk of additional children you might have also inheriting the disease. How did our child inherit AADC deficiency? A mutation in a gene that encodes for a protein which makes neurotransmitters…

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…