CTD is also known as carnitine uptake defect or primary carnitine deficiency. CTD presents with hypoketotic hypoglycemia, hyperammonemia, liver dysfunction, cardiomyopathy, and skeletal hypotonia. Neonatal presentations are unusual, while children may present with cardiomyopathy. In NBS, affected infants ...
(CACT) 1Elevated C16 (palmitoyl carnitine) 1Elevated C18:1 (oleyl carnitine) aFatty acids metabolic disorders show elevated levels of certain acyl- carnitines at birth, but in neonates with Carnitine Uptake/Transport deficency (CU/TD), the levels of free carnitine are low (see CU/TD ...
Additionally, functional testing of fibroblast carnitine uptake remains necessary for cases in which other confirmatory testing is inconclusive. Even with utilization of all available diagnostic testing methods, confirmation of CTD ascertained by NBS remains lengthy and challenging. Incorporation of molecular ...