Malignant hyperthermia susceptibility type 1
Overview
A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 1 is located at 19q13.1
Symptoms
* Severe hyperthermia * Rigid muscles * Metabolic acidosis * Tachycardia * Increased carbon dioxide production
Causes
3-methylglutaconic aciduria, type 1 - metabolic acidosis 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency - metabolic acidosis 4-hydroxyphenylpyruvate hydroxylase deficiency Acetazolamide Acidemia, methylmalonic