Research yields potential treatment approach for glycogen storage disease

Contact: Sarah AveryPhone: 919-660-1306Email: [e-mail]
FOR IMMEDIATE RELEASE on Wednesday, Nov. 18, 2015
DURHAM, N.C. and SINGAPORE – Researchers from the Duke-NUS Graduate Medical School Singapore (Duke-NUS) and Duke Medicine have identified a potential treatment strategy for an often-fatal inherited glycogen storage disease.
E-published ahead of print recently in the Journal of Hepatology, the study provides much-needed hope for the management of glycogen storage disease Ia, known as GSDIa or von Gierke disease, a genetic metabolic disorder that requires lifelong dietary therapy. 
Patients with the disorder lack the enzyme that enables their livers to convert a glucose precursor to glucose during fasting conditions. Without release of glucose from the liver into the bloodstream, patients develop an extremely low blood sugar level that can lead to seizures, coma and death. 
To manage the condition, patients eat frequently and consume raw cornstarch on a strict schedule. But the inability of the liver to produce glucose results in an over-accumulation of glycogen and fat in the liver, which contributes to an enlarged and fatty liver. Eventually, many patients with GSDIa develop liver tumors and renal failure, and often die in early adulthood. 
“GSDIa is a devastating disease,” said senior author Paul Yen, M.D., of the Cardiovascular and Metabolic Disorders Programme at Duke-NUS. “Diet management is currently the only way to manage the disease, but it ca...

Source: DukeHealth.org: Duke Health Features - November 18, 2015 Category: Pediatrics Tags: Duke Medicine Source Type: news