No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals
Autor: | Hans G. Kress, Thomas Wieser, Birgit Kraft |
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Rok vydání: | 2008 |
Předmět: |
Adult
Male Hyperthermia medicine.medical_specialty Adolescent Metabolic myopathy Biology Internal medicine medicine Humans Carnitine Muscle Skeletal Genetics (clinical) Carnitine O-Palmitoyltransferase Malignant hyperthermia Skeletal muscle Muscle weakness medicine.disease medicine.anatomical_structure Endocrinology Neurology Pediatrics Perinatology and Child Health Female Neurology (clinical) Carnitine palmitoyltransferase II deficiency medicine.symptom Malignant Hyperthermia Rhabdomyolysis medicine.drug |
Zdroj: | Neuromuscular Disorders. 18:471-474 |
ISSN: | 0960-8966 |
DOI: | 10.1016/j.nmd.2008.03.007 |
Popis: | Malignant hyperthermia is a rare, potentially life threatening pharmacogenetic disorder triggered by volatile anaesthetics and depolarizing muscle relaxants. The clinical picture comprises rhabdomyolysis, metabolic and respiratory acidosis, and hyperthermia. Carnitine palmitoyltransferase II deficiency is a metabolic myopathy affecting the transport of fatty acids into the mitochondria, leading to impaired energy supply under stressful conditions resulting in muscle weakness and rhabdomyolysis. It was postulated in a previous study that some patients with the MH phenotype have a carnitine palmitoyltransferase deficiency. To investigate a potential association, we tested 18 individuals with proven MH susceptibility for impairment of carnitine palmitoyltransferase enzyme activity in muscle. Enzyme activity was normal in all individuals tested indicating no impairment of the CPT system in this sample of malignant hyperthermia susceptible individuals. Thus our data do not support the hypothesis that susceptibility to malignant hyperthermia has an effect on the carnitine palmitoyltransferase enzyme system. |
Databáze: | OpenAIRE |
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