Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One hundred thirty-one patients who were referred for muscle biopsy for in vitro contracture testing (IVCT) for susceptibility to malignant hyperthermia (MH) were studied. Serum creatine kinase (CK) levels were determined routinely before biopsy by the hospital clinical laboratories. Thirty-four had abnormal IVCTs (indicating susceptibility to MH) and 87 patients had normal IVCTs; all these 121 patients had normal CK levels. Ten additional patients had other muscle disorders (central core disease, hyperkalemic periodic paralysis, and Duchenne's muscular dystrophy) and abnormal IVCTs; six of the ten had elevated CK levels. We conclude that the serum CK level, as determined routinely, does not identify MH-susceptible individuals, but may indicate the presence of muscle disease. Therefore, the use of serum CK level as a screening or diagnostic test for susceptibility to MH should be abandoned.
JAMA 1986 Feb 14
PMID:Serum creatine kinase level as a screening test for susceptibility to malignant hyperthermia. 394 79

Malignant hyperthermia (MH) is a pharmacogenetic clinical syndrome that manifests as a hypermetabolic crisis when a susceptible individual is exposed to an anesthetic triggering agent. Clinical signs include unexplained elevation of end-tidal carbon dioxide, muscle rigidity, acidosis, tachycardia, tachypnea, hyperthermia, and evidence of rhabdomyolysis. This process is a result of an abnormally increased release of calcium from the sarcoplasmic reticulum, which is often caused by an inherited mutation in the gene for the ryanodine receptor (RYR1) that resides in the membrane of the sarcoplasmic reticulum. The gold standard for determination of MH susceptibility is the caffeine-halothane contracture test. However, it is invasive, requiring skeletal muscle biopsy and is not widely available. Researchers have begun to map mutations within the ryanodine receptor gene (chromosome 19q13.1) responsible for conferring MH susceptibility. Ryanodine receptor mutations are found in at least 25% of known MH susceptible individuals in North America. Mutation analysis has recently become available in the United States and is expected to play an integral role in the diagnosis of MH susceptibility in the future.
JAMA 2005 Jun 15
PMID:Malignant hyperthermia: update on susceptibility testing. 1595 37