DWQA QuestionsCategory: QuestionsMcadd severity prediction
Nick s asked 9 months ago
I would like to know a little more about how to predict if my son is going to have a severe case of MCADD.
His nbs c8 levels were at 5.2, c10 was 0.57, and c2 was at 5.50, c12 was at 0.08. Had MCAD genotype which
was positive for two pathogenic variants at p.Lys329Glu (c.985A>G) and p.Trp82Leufs*23 (c.244dupT).

Can anyone help me with a prediction or rank him from what you have seen in terms of levels on a scale of 1-10 for me?

Thank you,


1 Answers
Jerry Vockley answered 9 months ago
The first mutation is the most common one in patients with MCAD deficiency and is completely inactivating. The second one interrupts the protein early in its synthesis and thus none is made.
This combination of mutations is likely to be severe and thus your child should be followed closely by his metabolic physician. However, keep in mind that not all patients with severe mutations
have severe disease and we really don’t know why. So prepare for the worst and hope for the best.
I hope this helps.
Dr. Vockley