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 causes AADC deficiency. Neurotransmitters are important signaling molecules in the brain. A child who inherits two copies of a disease-causing mutation in this gene (one from you and one from your partner) will develop AADC deficiency. This is called recessive inheritance.
What are the risks for future children?
If you have a child with AADC deficiency, it is likely that both you and your partner are carriers of the disease. This means that you each have a copy of a disease-causing mutation. You can pass this mutation onto your children.
Genetic testing can help you confirm your carrier status. You should also discuss your family medical history with a genetic counselor as part of family planning. The genetic counselor can explain the results of any genetic tests.
If you are both carriers, each of your children has a 1 in 4 chance of inheriting two copies of a disease-causing mutation and developing AADC deficiency. Your children also have a 1 in 2 chance of being carriers; that is, they inherit only one copy of a disease-causing mutation from either of you.
Your reproductive options
There are alternative reproductive options if you would like to have additional children, but want to minimize the risk that they will inherit the disease.
You should discuss your options with your doctor and genetic counselor. They can help you with determining which one suits you and your family best.
Last updated: June 17, 2020
AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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