title: Critical illness in energy metabolism genetic disorder: rhabdomyolysis, acute kidney injury, respiratory arrest.
abstract: In very long-chain acylCoA dehydrogenase deficiency (VLCAD), the activity of this enzyme is either reduced or absent with the inability to use long-chain fatty acids as energy substrates. A 25-year old male with VLCAD was admitted to the Emergency Department of Policlinico Teaching Hospital (Modena, Italy)for generalized weakness and oliguria, after a period of physical and mental stress and inadequate compliance to a long-chain fatty acid free diet. Laboratory tests were compatible with acute kidney injury. Seventy-two hours after admission, the subject had an episode of chest pain with elevated markers of myocardial necrosis. The rapid deterioration of muscular strength and the subsequent worsening respiratory failure necessitated ventilator support within the local Medical Intensive Care Unit. There, the patient showed a prompt normalization of respiratory parameters and a steady improvement of renal function. An inadequate compliance to lifestyle and dietary restriction in VLCAD may trigger severe and potentially lethal crisis. The in-hospital management of these patients calls for early intensive care admission as their conditions may deteriorate without warning.
authors.affiliation: School of Anaesthesia and Intensive Care, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Giuliani
authors.affiliation: Department of Cardiology, Policlinico Teaching Hospital, Modena, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Coppi
authors.affiliation: School of Anaesthesia and Intensive Care, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Bertolotti
authors.affiliation: School of Cardiology, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Gorlato
authors.affiliation: School of Cardiology, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Zavatta
authors.affiliation: School of Anaesthesia and Intensive Care, University of Modena and Reggio Emilia, Modena, Italy. alberto.barbieri@unimore.it.
authors.forename: A
authors.initials: A
authors.lastname: Barbieri