DWQA QuestionsCPT2 deficiency genetic testing
Sheryl L. Mulder asked 5 years ago
My newborn grandson just tested positive for screening for this disorder. They had further testing to confirm it was no CACT but CPT2 deficiency. All of his testing for organ function and health are normal at this time. He is taking Enfaport formula every 3 hours. At this point his parents are being told he likely has the myopathic (adult onset) form of the disease but they will still be getting genetic final results in a week or two. We know he does not have the neonatal (most severe form). We also know that the milder form varies widely in severity among people with this subtype. Will the genetic testing results be able to rule out the infant (2nd most serious form) from the myopathic form? Or is that only based on how he does over the next several months? Is there any way from genetic testing for them to be able to determine within the myopathic subtype he will have more frequent episodes rather than fewer episodes of problems? Does the fact that his neonatal screening test come out positive rather than borderline or false negative mean he has a more severe type?
replied 5 years ago

Ms. Mulder, the genetic testing is the best first test to determine likely severity. The most likely possibility is that he has one copy of the late onset form variants and another that is more severe. This leads to a much milder clinical condition than if both copies are severe. Most of the time, if both copies have a late onset variant, the newborn screen is normal. Regardless, you’ll want to wait for the genetic testing to decide next steps. In the meantime, the frequent feeds and watchfulness is the best therapy. Parents should call their metabolic physician if there are any changes in the baby’s behavior. Hope this helps.