Vol. 6, Issue 2, Part A (2024)

The conditions known as fatty acid oxidation disorders (FAODs) are a cluster of genetic disorders inherited in an autosomal recessive manner and associated with substantial morbidity and mortality. However, they are generally considered promising candidates for newborn screening (NBS) programs. Carnitine palmitoyltransferase (CPT) II deficiency ranks among the prevalent types of disorders affecting muscle fatty acid metabolism. This condition has been categorized clinically into three phenotypes, with the myopathic form being the most prevalent manifestation of CPT II deficiency.
Here we report a case of rhabdomyolysis due to a muscle form of CPT II deficiency in an infant with normal NBS results.
We conclude that CPT II deficiency should be suspected in cases of significant rhabdomyolysis episodes, even when NBS results are normal. Additionally, if the acylcarnitine profile during the rhabdomyolysis crisis remains normal but clinical suspicion persists, genetic studies must be conducted.