Health Insights

AADC Deficiency and Ethnicity

Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease caused by mutations in the gene that encodes for the AADC protein. The disease seems to be more common in some parts of the world, and people of certain ethnicity may be at higher risk for the…

AADC Deficiency and the Heart

As a very rare genetic medical condition affecting the nervous system,  aromatic l-amino acid decarboxylase (AADC) deficiency can have a wide range of symptoms, including movement disorders, oculogyric crises and, in rare instances, heart problems. What is AADC deficiency? AADC deficiency is caused by mutations in the DDC…

Respite Care for Children With AADC Deficiency

Providing constant care and supervision to a child who has a chronic disease such as aromatic l-amino acid decarboxylase (AADC) deficiency can be mentally, physically, and emotionally draining. Respite care may be beneficial for you, your child, and your family. What is AADC deficiency? AADC deficiency is a rare…

Medical Alert Cards for AADC Deficiency

Aromatic l-amino acid decarboxylase (AADC) deficiency can cause sudden cardiac issues, oculogyric crises, and problems with breathing and blood pressure, among other symptoms. Physicians may not be familiar enough with AADC to respond adequately in such situations. That’s why medical alert cards are very important.

My Child Needs a Lumbar Puncture, Now What?

If doctors suspect your child might have aromatic l-amino acid decarboxylase (AADC) deficiency, they may order a lumbar puncture to aid in a diagnosis. Here are some tips on what to expect with this procedure. What is AADC deficiency? AADC deficiency is a rare genetic disorder characterized by developmental…

Feeding Tubes for AADC Deficiency

Nursing and swallowing can be difficult for children with aromatic l-amino acid decarboxylase (AADC) deficiency, and raise the possibility of both poor nutrition and choking. Because of feeding problems, these children will likely need some form of a feeding tube during their life, lowering these risks and increasing their chances…

Prevalence of AADC Deficiency

Researchers don’t know the exact prevalence (how common a disease is among a population) of aromatic l-amino acid decarboxylase (AADC) deficiency. However, they have conducted several studies in an attempt to estimate it. These studies screened for the disease in several countries around the world. Estimates of AADC deficiency…

Family Help for AADC Deficiency

Taking care of a child with aromatic l-amino acid decarboxylase (AADC) deficiency can be overwhelming for parents or caregivers. But there are some ways you, as a family member, can help the primary caregivers of a child with AADC deficiency. Why it’s important to help Taking care of…