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| Disease found: | Von Gierke Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Deficiency in G6Pase (GSD Type 1a) or G6P transporter (GSD Type 1b) impairs terminal step in both glycogenolysis and gluconeogenesis preventing glycogen use and lowering blood glucose. [more info] |
| Signs and Symptoms: | Presents in first few months of life with severe hypoglycemia, lactic acidosis, hyperuricemia, hepatomegaly and nephromegaly (from glycogen and fat deposition in liver and kidneys). Patient may have full cheeks, relatively thin extremities, short stature, and protuberant abdomen. [more info] |
| Diagnosis: | Genetic panel for mutations in G6PC and SLC37A4 required for diagnosis. |
| Treatment: | Small, frequent feedings spread over 24 hours with supplemental cornstarch. Overnight feeding tube may be needed to avoid hypoglycemia. Avoid sucrose, galactose, fructose, high fructose corn syrup, honey, maple syrup, molasses, agave nectar, and sorbitol. Complete multivitamin likely needed given dietary restrictions. [more info] |
| Clinical Management: | Kidney and liver ultrasound, labs (including CBC, CMP, LFTs, coagulation panel), at least annually. Bone density every 1-2 years. [more info] |
| Referral: | Several large academic medical centers have dedicated Glycogen Storage Disorder programs/clinics. Genetic counseling is recommended. The Scientific Advisory Board of the Association for Glycogen Storage Disease offers a list of hospitals with GSD-focused clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | One study in China is currently recruiting; several trials are active but not currently recruiting. |