A Genetic Mutation Responsible for Glycogen Storage

A GENETIC MUTATION RESPONSIBLE FOR GLYCOGEN STORAGE

disease type IIIa has been identified in Inuit in northern Quebec by a team of Canadian and Japanese researchers. They reported their findings in the Canadian Medical Association Journal.

Glycogen storage disease type IIIa is an inherited metabolic disorder that interferes with the body’s ability to release sugar from glycogen for energy, reads a press statement from the University of Manitoba. Excessive glycogen deposits can damage the liver, heart and skeletal muscle. Symptoms include recurrent low blood sugar levels (hypoglycemia), enlarged liver and muscle weakness.

The researchers conservatively estimate that about one in 2,500 people in Nunavik may have glycogen storage disease type IIIa. The mutation had been previously reported in 12 North African Jewish patients but never in North American children and had gone undetected during a decade of investigation by the Canadian and Japanese researchers.

“This discovery will help interested families and communities receive genetic counselling and screening to help identify and manage the disease,” said Celia Rodd from the Department of Pediatrics and Child Health at the University of Manitoba. “Early diagnosis may help prevent hypoglycemia and organ damage in infants and serious health complications.”