Abstract: ObjectiveTo analyze the clinical presentation and treatment of a case of glycogen storage disease (GSD) type Ⅰb with severe hypertriglyceridemia due to SLC37A4 gene mutation. MethodsThe clinical manifestations, laboratory examination, imaging examination, gene mutation characteristics and treatment of an infant with GSD type Ⅰb were concluded. And the related literature was reviewed. ResultsAn eight-month-old female infant was hospitalized for reduced eating for 2 months and fever for 1 week who presented with severe hypertriglyceridemia (triglycerides were 79.97 mmol·L-1), refractory hypoglycemia, hyperlacticemia, and hepatomegaly. After twice plasmapheresis, triglyceride dropped markedly. After pumped skimmed milk via nasogastric tube and fed with uncooked cornstarch to maintain normoglycemia, the infant's vital signs became stable. The diagnosis of GSD type Ⅰb was confirmed by molecular genetic testing. Mutation of c.1063G>T (p.E355*) and c.343G>A (p.G115R) were detected in SLC37A4 gene in this infant, which were separately inherited from her mother and father. ConclusionGlycogen storage disease should be highly suspected in patients with severe hypertriglyceridemia, recurrent hypoglycemia, hepatomegaly. Gene analysis can help to clarify a diagnosis. Plasmapheresis is an effective therapeutic tool to rapidly reduce triglycerides levels in patients with severe hypertriglyceridemia. As for these patients, diet therapy is also demanded such as skimmed milk and uncooked cornstarch.