Glycogen storage disease type I natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Natural History

• GST type 1 presents first as an average age of 6 months (1 - 12 months).
• If left untreated, patients with GSD I dies in infancy or childhood of overwhelming hypoglycemia and acidosis.
• Surviving individuals have stunted physical growth and delayed puberty due to chronically low insulin levels.
• Mental retardation as a result of severe and recurrent hypoglycemia is considered preventable with appropriate treatment.

Complications

Common complications of glycogen storage disease type I include:

• Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)
• Short stature
• Truncal obesity
• Rounded doll-like face
• Wasted muscles
• Bleeding tendency due to impaired platelet function
• Pancreatitis due to hypertriglyceridemia
• Cholelithiasis due to hypertriglyceridemia
• Gout arthritis due to hyperuricemia
• Nephrolithiasis and nephrocalcinosis due to hyperuricemia
• Asymptomatic anemia
• Osteopenia leading to pathologic fractures
• Rickets

Hepatic complications have been serious in some patients. Adenomas of the liver can develop in the second decade or later, with a small chance of later malignant transformation to hepatoma or hepatic carcinomas (detectable by alpha-fetoprotein screening). Several children with advanced hepatic complications have improved after liver transplantation.

Additional problems reported in adolescents and adults with GSD I have included hyperuricemic gout, pancreatitis, and chronic renal failure. Despite hyperlipidemia, atherosclerotic complications have been infrequently reported.

Prognosis

With diagnosis before serious harm occurs, prompt reversal of acidotic episodes, and appropriate long-term treatment, most children will be healthy. With exceptions and qualifications, adult health and life span may also be fairly good, although lack of effective treatment before the mid-1970s has limited our long-term information.