AADC (or aromatic l-amino acid decarboxylase) deficiency is a rare genetic
disorder that affects the brain. It interferes with the way the cells in the nervous system talk to each other through a person’s neurotransmitters. In AADC
deficiency, a genetic mutation leads to a decrease in the amount of
neurotransmitters made by the body. AADC deficiency manifests with several key characteristics and symptoms. Many of these symptoms are noticed when a child is still an infant, at about 10 weeks old: Poor muscle tone (hypotonia), delayed development in head control, crawling, speech, and other areas, body movement disorders such as dystonia (twitching) or hypokinesia (decreased body movements), involuntary eye movements (oculogyric crisis), abnormally excessive sweating (hyperhidrosis), hypersalivation, drooping eyelids (ptosis), gastrointestinal problems such as reflux, diarrhea or constipation, behavioral problems, sleep disturbances. AADC deficiency is sometimes mistaken for cerebral palsy, epilepsy and even autism. AADC deficiency is an extremely rare disease. Because its symptoms are similar to those of other diseases, it can be difficult and time-consuming to diagnose. At this time, there is no cure for AADC deficiency. Certain treatments can sometimes help improve a child’s symptoms. A pediatrician or general practitioner can advise on how to provide occupational or physical therapies which can improve quality of life. In addition, a doctor might refer AADC deficiency patients to a pediatric neurologist, a movement disorder specialist, a clinical geneticist, or another specialist who can help identify relevant and helpful treatments.
Description Last Updated: Sep 25, 2020