First, thank you for the idea of providing this space for families, which we greatly appreciate, I have a question that many families ask themselves very often, can you know if the severity of MCAD can be determined by the type of mutation? Or does this not necessarily imply future gravity? We would appreciate if you could clarify this doubt, thank you very much.
The most common mutation (985 A>G) causes complete deficiency and can lead to severe, life-threatening symptoms. However, any one individual’s clinical picture can’t be predicted as there are many other factors that play into their development. So unfortunately, the answer to your question is that we can predict risk of severity but not likely outcome for any one person. I hope this helps. Dr. Vockley
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