Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.

doi:10.1213/ane.0b013e3181ad63b4

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Article

Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.

Anesthesia and analgesia - 1 Oct 2009

Hogan Kirk J, Vladutiu Georgirene D

Abstract excerpt

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...

Topics

Amino Acid Substitution
Anesthetics, Inhalation
Arginine
Carnitine O-Palmitoyltransferase
Child, Preschool
Cysteine
Female
Genetic Predisposition to Disease
Halothane
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Malignant Hyperthermia

Metabolism, Inborn Errors

Mutation

Neuromuscular Depolarizing Agents

Risk Factors

Succinylcholine

Syndrome

Source

Open in PubMed

Identifiers

PMID: 19762733
DOI: 10.1213/ane.0b013e3181ad63b4

Genes

CPT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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