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…
While aromatic l-amino acid decarboxylase (AADC) deficiency primarily affects the nervous system, it also can impact several other systems in the body. Thus, your child will need to see a multidisciplinary treatment team in addition to a primary care physician to make sure that he or she receives the…
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…
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…
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.
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…
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…
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…
As a parent, finding out that your child has a rare genetic disorder like aromatic L-amino acid decarboxylase (AADC) deficiency can be overwhelming. Here are a few frequently asked questions, with answers and links, to help you learn more about the disorder and what to expect. What is 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…
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