Article
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
Cancer research and treatment - 1 Oct 2016
Ferrara Alfonso Massimiliano, Sciacco Monica, Zovato Stefania, Rizzati Silvia, Colombo Irene, Boaretto Francesca, Moggio Maurizio, Opocher Giuseppe
Abstract excerpt
von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. Rhabdomyolytic episodes may be complicated by life-threatening events, including acute renal failure (ARF). We...
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