Advanced planning is important when traveling with a child who has aromatic l-amino acid decarboxylase (AADC) deficiency. Healthcare Be sure to take your child to see his or her primary physician at least a month before you leave. During the visit, the doctor can review your son’s or daughter’s…
If you or a family member has a genetic disease like aromatic L-amino acid decarboxylase (AADC) deficiency, you might benefit from genetic counseling. What is genetic counseling? If you have AADC deficiency, genetic counseling can help you understand whether you are at risk of passing this disease to your children.
Genetic testing looks for changes in the genome — an organism’s complete set of DNA — that might indicate the presence of a genetic disease such as aromatic L-amino acid decarboxylase (AADC) deficiency. Genetics of AADC deficiency Mutations in a gene called dopa decarboxylase (DDC)…
If you know you are a carrier for aromatic L-amino acid decarboxylase (AADC) deficiency, you may have already spoken to a genetic counselor about your risks of passing the disease on to your children and your reproductive options. Carriers of a genetic disease have a single copy…
If you have a child with aromatic L-amino acid decarboxylase (AADC) deficiency, you may be worried about the risk of additional children you might have also inheriting the disease. How did our child inherit AADC deficiency? A mutation in a gene that encodes for a protein which makes neurotransmitters…
If your child has aromatic l-amino acid decarboxylase (AADC) deficiency, you may want to consider participating in the patient registry of the International Working Group on Neurotransmitter Related Disorders (iNTD). The group’s aim is to foster global exchange of clinical data, with the ultimate goal of improving…
Newborn screening for aromatic L-amino acid decarboxylase (AADC) deficiency has been studied, but has not yet been not been implemented. This is due partly to a lack of availability and standardization of noninvasive testing methods. Still, innovative treatment options, particularly gene therapy, have underscored the importance…
There have been only about 100 cases of aromatic L-amino acid decarboxylase (AADC) deficiency described in the medical literature. It is very difficult to develop effective treatments when the patient population is so small. But one way patients can help with research into new treatments is to participate…
Medical procedures and tests sometimes require anesthesia, which can be especially challenging for patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disease characterized by reduced activity of the AADC enzyme. When there isn’t enough functional AADC enzyme, the body cannot make enough serotonin and…
Aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare disorder that affects the nervous system. The disease can lead to seizures, muscle weakness, and other symptoms. Having an infection or changing medications can cause what is known as a dystonic crisis, a rare but serious complication.
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