Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency) Differential Diagnoses

Updated: Nov 14, 2023
  • Author: Rodrigo T Starosta, MD, PhD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

Important clinical criteria to consider in the evaluation of a child with hypoglycemia and suspected glycogen storage disease type 0 (GSD 0) include (1) the presence or absence of hepatomegaly; (2) the characteristic schedule of hypoglycemia, including unpredictable, postprandial, short fast, long fast, or precipitating factors; (3) the presence or absence of lactic acidosis; (4) any associated hyperketosis or hypoketosis; and (5) any associated parenchymal liver disease (eg, elevated liver transaminases, fibrosis/cirrhosis). [1]

The differential diagnosis also includes ketotic hypoglycemia. Patients with ketotic hypoglycemia have a normal response to glucagon in the fed state. Patients with glycogen-storage disease type 0 have normal-to-increased response to glucagon in the fed state, with hyperglycemia and lactic acidemia.

Differential Diagnoses