Only about 100 cases of aromatic l-amino acid decarboxylase (AADC) deficiency are reported in scientific literature globally. This is partly because some individuals are wrongly diagnosed with cerebral palsy or other neurological conditions. Here are some reasons for the misdiagnoses that commonly accompany AADC deficiency. What is…
Having a child with is a rare genetic disorder like aromatic L-amino acid decarboxylase (AADC) deficiency is life-altering. As with most diseases, early diagnosis and treatment usually lead to better outcomes. That is why it is important to raise awareness about the disease. Following are some ways you can help…
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that involves a decrease in several neurotransmitters — chemicals that send messages to and from nerve cells — such as dopamine and serotonin. These neurotransmitters play an important role in mood and emotions. What are…
People with aromatic l-amino acid decarboxylase (AADC) deficiency, whose symptoms usually begin during infancy, sometimes experience seizures. Seizure monitors can help alert family members and caregivers that a seizure is occurring, and may provide some peace of mind when the patient is less…
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…
There are only about 100 reported cases of aromatic l-amino acid decarboxylase (AADC) deficiency globally. That’s partly because some patients do not receive the right diagnosis and doctors think they have cerebral palsy or another neurological condition. To drive the identification of more AADC patients, and to raise…
Get regular updates to your inbox.