Abstract
Metabolic disorders occur due to abnormal metabolic processes caused by an acquired failure of a metabolic organ or an inherited abnormality of enzymes [1]. The US National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD) currently lists 515 entities as metabolic disorders grouped into 18 subclasses (Table 13.1). Here, we discuss current approaches to evidence-based perioperative management of patients with rare metabolic disorders, i.e. those metabolic diseases with a prevalence/incidence as little as 1:200,000 or fewer [2]. Very rare diseases, or diseases for which prevalence/incidence is unknown, or which are only known to occur in members of a particular family, are regarded as very rare and are not covered. As well, we do not discuss diseases that have not been reported in the English language literature. Our goal is not to be comprehensive, but, rather, to provide a general overview of anaesthesia and rare metabolic disorders.
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Luedi, M.M., Stueber, F. (2018). Anaesthesia and Rare Metabolic Disorders. In: Fellahi, JL., Leone, M. (eds) Anesthesia in High-Risk Patients. Springer, Cham. https://doi.org/10.1007/978-3-319-60804-4_13
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DOI: https://doi.org/10.1007/978-3-319-60804-4_13
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