Diagnostic Value of Epinephrine Stimulation Test in Distinguishing Type Ⅰ and Type Ⅲ Glycogen Storage Diseases

  Objective  To analyze the value of epinephrine stimulation test in distinguishing type Ⅰ and type Ⅲ glycogen storage diseases (GSD).

  Methods  The clinical data of genetically diagnosed type Ⅰ and Ⅲ GSD patients from March 1991 to February 2012 in Peking Union Medical College Hospital were retrospectively analyzed. All the patients finished fasting and postprandial epinephrine stimulation test. The diagnostic value of fasting and postprandial epinephrine stimulation test was evaluated against gene diagnosis as the gold standard.

  Results  Totally, 144 GSD patients(88 males and 56 females) with an average age of (5.77±4.58)years were included. There were 68 cases of GSD type Ⅰa, 20 cases of GSD type Ⅰb, and 56 cases of GSD type Ⅲ. Fasting epinephrine stimulation test showed no significant increase in blood glucose level in all the 144 patients, while postprandial epinephrine stimulation test exhibited that blood glucose level significantly increased in 44 cases, including 8 cases of type Ⅰ and 36 cases of type Ⅲ, with significant difference in the percentage of patients effective to the test between the two types (P < 0.01). The sensitivity and specificity of postprandial epinephrine stimulation test in diagnosing GSD type Ⅰ were 90.9% and 64.3%, respectively, and those in diagnosing GSD type Ⅲ were 64.3% and 90.9%, respectively. The sensitivity and specificity in patients ≤2.5 years old were significantly lower than those in patients > 2.5 years old (P < 0.01). In patients > 2.5 years, the sensitivity and specificity of epinephrine stimulation test were 95.4% and 77.1% in GSD Ⅰ, and 77.1% and 95.4% in GSD type Ⅲ.

  Conclusion  Epinephrine stimulation test still can be helpful in distinguishing GSD type Ⅰ and GSD type Ⅲ, especially liable in patients > 2.5 years old.