Sometimes the misfortune of one patient can open a new window into health care. In one recent instance, the patient was a young Swedish man who went into cardiac arrest. When researchers at Sahlgrenska University Hospital at the University of Gothenburg, Sweden began looking into the cause of the mans condition (he survived, thanks to paramedics), they found that he had a disorder that hadnt ever been identified by scientists before. Their findings were published in the New England Journal of Medicine on April 19.
The newly discovered disorder stems from a genetic defect in a protein called glycogenin. Glycogenin helps build up glycogen (stored carbohydrate) to fuel the muscles. It does so by building up a short chain of approximately ten sugar molecules. "The disorder is characterized by an inability to form the initial chain of sugar molecules," says Anders Oldfors, who headed up the research team and is a professor at the Sahlgrenska Academy and consultant at Sahlgrenska University Hospital. "This leads to a shortage of glycogen and an energy crisis in the muscle cells that can result in cardiac arrest."
Its uncertain how many people actually have this disorder, but Oldfors believes that its discovery gives doctors the opportunity to make a correct diagnosis and provide patients with appropriate treatment. While there is no cure for the disorder, the future may hold remedies in the way of gene therapy or individualized treatment.
Source: University of Gothenburg
