Perioperative management of an adult patient with heterozygous medium chain acyl CoA dehydrogenase deficiency: a case report

Abstract

Medium chain acyl CoA dehydrogenase (MCAD) deficiency is the most common disorder of beta-oxidation of fatty acids. The disease usually presents in childhood with episodes of hypoketotic hypoglycemic coma. Patients are particularly vulnerable during episodes of metabolic disruption, such as infection, surgery or starvation, which if left undetected can result in progressive multiple organ damage or even death. The enhanced recognition of heterozygous patients and the effective management of their metabolic milieu are likely to increase the prevalence of MCAD deficiency in the adult population, which will result in more adult patients with MCAD deficiency as a co-morbidity presenting for surgery. The disease has significant perioperative implications, and awareness about the condition and simple measures can significantly affect outcome. In this report, we describe uneventful anesthetic management during an emergent laparoscopic ovarian cystectomy in an adult female patient with compound heterozygous MCAD deficiency.