Clinical symptoms, or expressing a biochemical phenotype? I don't think there has been much literature on symptomatic carriers, but they can have a biochemical phenotype. Mild C8 elevations have been seen in heterozygous carriers, particularly for the A985G common mutation (is C10 > C8?). Consider urine acylglycines, ruling out deletions, and checking to see if the two changes you did identify were in cis or trans.

Thank you very much! Best Regards.

Thank you, I've read two of the papers on the list but haven't written to the authors. Thanks for the advice.