Presentation and diagnosis of GSDIa

Presentation
and Diagnosis

Clinical course of GSDIa

Clinical
Course

Nutrition management in GSDIa

Nutrition
Management

Lifelong management of GSDIa

Lifelong
Management

Presentation and Diagnosis icon

Presentation and Diagnosis

Hypoglycemia and hepatomegaly presenting in infants may raise suspicion for GSDIa.2 Diagnosis is typically confirmed via genetic testing.2

Clinical Course icon

Clinical Course

People with GSDIa live with the acute risk of life-threatening hypoglycemic episodes and the ongoing potential for long-term complications.1

Nutrition Management icon

Nutrition Management

Management with cornstarch and nutrition can improve glucose homeostasis and metabolic stability.1

Lifelong Management icon

Lifelong Management

Frequent blood glucose monitoring, along with lifelong surveillance and management of complications,are essential components of GSDIa care.3

Abbreviation: GSDIa, glycogen storage disease type Ia.

References: 1. Derks TGJ, Rodriguez-Buritica DF, Ahmad A, et al. Glycogen storage disease type Ia: current management options, burden and unmet need. Nutrients. 2021;13(11):3828. 2. Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014;16(11):e1. 3. Bali DS, El-Gharbawy A, Austin S, et al. Glycogen storage disease type I. 2006. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Accessed June 27, 2025. https://www.ncbi.nlm.nih.gov/books/NBK1312/