| Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. | |
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MedLine Citation:
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PMID: 19762733 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Kirk J Hogan; Georgirene D Vladutiu |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Anesthesia and analgesia Volume: 109 ISSN: 1526-7598 ISO Abbreviation: Anesth. Analg. Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-09-18 Completed Date: 2009-10-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 1310650 Medline TA: Anesth Analg Country: United States |
Other Details:
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Languages: eng Pagination: 1070-2 Citation Subset: AIM; IM |
Affiliation:
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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 |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Substitution Anesthetics, Inhalation / adverse effects* Arginine Carnitine O-Palmitoyltransferase / deficiency, genetics* Child, Preschool Cysteine Female Genetic Predisposition to Disease Halothane / adverse effects* Heterozygote Humans Malignant Hyperthermia / etiology*, genetics, therapy Metabolism, Inborn Errors / complications*, enzymology, genetics Mutation Neuromuscular Depolarizing Agents / adverse effects* Risk Factors Succinylcholine / adverse effects* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Anesthetics, Inhalation; 0/Neuromuscular Depolarizing Agents; 151-67-7/Halothane; 306-40-1/Succinylcholine; 52-90-4/Cysteine; 74-79-3/Arginine; EC 2.3.1.21/Carnitine O-Palmitoyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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