A new form of CPT2 deficiency in a 15-year-old patient

Abstract

In this article we present the case of a 15-year-old patient diagnosed in Romania with a new form of CPT2 deficiency (carnitine-palmitoil-transferase). This diagnosis was established by genetic and functional tests. In this way we want to show a possible etiology of serious cases of rhabdomyolysis and to indicate a treatment for these cases. The diagnosis was made late because the clinical picture was not a specific one, the manifestations being long ignored or misinterpreted as behavioral disorders. We also want to draw attention to a new gene configuration that can sometimes lead to extremely severe crises involving life-threatening.

Keywords

• rhabdomyolysis
• hyperamonia
• heart disease
• acute renal failure
• hypoglycemia