DWQA Questionsfactors-affecting-newborn-screening-results
Sheryl Mulder asked 4 years ago
My grandson was born in early November and diagnosed with CPT2 deficiency, most likely the non-infant form but will get final results next week. He is doing well and taking enfaport every 3 hours and no health problems discovered at this point in time. If an infant has hyperbilirubinemia (due to very bruised head) and minimal feeding in 1st 24 -36 hours affect strength of screening results at all. He did get put on light therapy and was supplemented with formula by nursing when they felt the bilirubin was too high.
Physician
replied 4 years ago

Ms. Mulder, the NBS result for fatty acid oxidation disorders is typically more abnormal in babies who are feeding poorly and the profile can resemble that of CPT2 deficiency. Most NBS labs have experience differentiating the two. However, getting it evaluated further is definitely the safest course. It sounds like you already have another sample pending. In the meantime, while mild CPT2 doesn’t usually become symptomatic in infancy, it would be safest to be certain the baby is feeding every 3-4 hours and is acting well. Otherwise he should see his pediatrician or metabolic physician. FYI, hyperbilrubinrmis can affect the NBS, buy does not look like CPT2 deficiency. Hope this helps. Dr. Vockley