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Glycogen storage disease could affect 1 in 500 Nunavik Inuit – CBC

by pmnationtalk on January 28, 201587450 Views

Mutation causes glycogen storage disease, which can result in enlarged livers and low blood sugar

Jan 27, 2015

A medical mystery that could have implications for Nunavik residents has been solved by researchers, 15 years after five Inuit children were found to have enlarged livers.

In a study published last week in the Canadian Medical Association Journal, Canadian and Japanese researchers identified a genetic mutation in Inuit responsible for glycogen storage disease type IIIa.

Researchers conservatively estimate that one in 2,500 Nunavik residents may have the disease, but Dr. Celia Rodd, who worked on the study, says it’s “probably closer to one in 500.”

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