Aromatic L-amino Acid Decarboxylase (AADC) Deficiency

What is AADC Deficiency?

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the brain.¹ 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.^1,2,3

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:^1,2,3,4

• 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

How Common is AADC Deficiency? Is it Treatable?

AADC deficiency is an extremely rare disease.¹ Because its symptoms are similar to those of other diseases, it can be difficult and time-consuming to diagnose.^1,3 At this time, there is no cure for AADC deficiency.¹

Certain treatments can sometimes help improve a child’s symptoms.¹ 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.¹

If you are a healthcare professional, please visit AADCawareness.com to stay informed about AADC Deficiency.