Clinical course of glycogen storage disease (GSDIa)

Patients face a daily risk of life-threatening hypoglycemia and are vulnerable to serious long-term complications^1,2

For patients with GSDIa, maintaining glucose homeostasis is a lifelong challenge that places them at risk of severe hypoglycemia and its complications, including developmental and physical delays, seizures, cerebral damage, and death.^1,2 Even with adherence to a prescribed nutrition plan and cornstarch regimen, patients may develop hypoglycemia due to fluctuations in metabolic demands (eg, during exercise, illness, puberty, pregnancy).² Persistent metabolic instability may lead to serious, multisystemic complications that can significantly impact quality of life.^2,3

Timeline of GSDIa multisystemic complication development^1,2,4*

*Disease course may vary by patient and this list is not representative of all possible complications of GSDIa.

Multisystemic complications of GSDIa^1,2,5*

Hepatic

Hepatomegaly, hepatic steatosis, hepatocelullar adenomas (HCAs), and hepatocellular carcinoma (HCC)

HCAs occur in 70%-80% of individuals older than 25 years of age, and progress to HCC in 10% of cases

Renal

Nephromegaly, progressive nephropathy, chronic kidney disease, renal failure, and nephrolithiasis

Renal dysfunction can be seen in childhood and commonly develops by teenage years. Dysfunction can progress to end-stage renal disease, requiring dialysis or kidney transplantation

Other

Hypertension
Pulmonary hypertension
Anemia/bleeding diathesis
Osteoporosis
Pancreatitis
Gout
Physical and developmental delays, short stature
Obesity, metabolic syndrome, disordered eating, and malnutrition associated with current disease management
Polycystic ovary syndrome
Xanthomas

*Disease course may vary by patient and this list is not representative of all possible complications of GSDIa.

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Abbreviations: GSDIa, glycogen storage disease type Ia; HCA, hepatocellular adenoma; HCC, hepatocellular carcinoma.

References: 1. 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. 2. 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. 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. 4. Ozen H. Glycogen storage diseases: new perspectives. World J Gastroenterol. 2007;13(18):2541-2553. 5. Cho JH, Lee YM, Bae SH, Chou JY. Activation of tumor-promoting pathways implicated in hepatocellular adenoma/carcinoma, a long-term complication of glycogen storage disease type Ia. Biochem Biophys Res Commun. 2020;522(1):1-7.

Clinical Course of GSDIa

Patients face a daily risk of life-threatening hypoglycemia and are vulnerable to serious long-term complications1,2

Timeline of GSDIa multisystemic complication development1,2,4*