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Korean J Anesthesiol. 2009 Sep;57(3):387-391. Korean. In Vitro.
Lee JW , Yi JS , Lee JR , Kim DC .
Department of Anesthesiology and Pain Medicine, Chonbuk National University Medical School, Jeonju, Korea.
Research Institute of Clinical Medicine, Chonbuk National University Medical School, Jeonju, Korea.

Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder manifested as a life threatening hypermetabolic crisis in susceptible individuals following exposure to inhalation anesthetics and to depolarizing muscle relaxants. The preoperative diagnosis of MH susceptibility is difficult. The gold standard for determination of MH susceptibility is the in vitro contracture test. However, it is invasive, requiring skeletal muscle biopsy and is not widely available. Recent advances in genetic testing for mutations that result in MH during anesthesia have helped some genetic test have limitations in clinical application due to the diversity of mutations. In Korea, we found the RYR1 genetic mutation by molecular genetic testing for MH susceptibility in a family for which MH had occurred. Based on the results of genetic testing, we could known MH susceptibility of 2 patients. We believe that the genetic testing for MH can be developed and used with some limitations in clinical settings in Korea.

Copyright © 2019. Korean Association of Medical Journal Editors.