| Title | Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. | | Author(s) | Hogan KJ, Vladutiu GD | | Institution | Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin, B6/319 Clinical Sciences Center, 600 Highland Ave., Madison, WI 53792-3272, USA. khogan@facstaff.wisc.edu | | Source | Anesth Analg 2009 Oct; 109(4):1070-2. | | MeSH | Amino Acid Substitution
Anesthetics, Inhalation
Arginine
Carnitine O-Palmitoyltransferase
Child, Preschool
Cysteine
Female
Genetic Predisposition to Disease
Halothane
Heterozygote
Humans
Malignant Hyperthermia
Metabolism, Inborn Errors
Mutation
Neuromuscular Depolarizing Agents
Risk Factors
Succinylcholine
Syndrome
| | Abstract | We describe a child who developed a malignant hyperthermia-like syndrome after exposure to succinylcholine and halothane. Many features of a typical malignant hyperthermia episode were present, including tachydysrhythmia, tachypnea, and fever in association with metabolic acidosis, hyperCKemia, myglobinemia, and rapid recovery without residual effects upon administration of dantrolene, sodium bicarbonate, and active cooling. Muscle rigidity, hypercarbia, and hyperkalemia were not observed. The patient was found to be heterozygous for a mutation in the carnitine palmitoyltransferase II gene (CPT2) encoding an arginine to cysteine substitution at amino acid 503 (R503C) with reduced activity of the enzyme. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Research Support, Non-U.S. Gov't
| | PubMed ID | 19762733 |
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