PRIMARY CARE
Recommendation 1
Kidney and liver ultrasound, labs (including CBC, CMP, LFTs, coagulation panel), at least annually. Bone density every 1-2 years.
Von Gierke Disease
Not Verified
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.
Common symptoms
Presents in first few months of life with severe hypoglycemialactic acidosishyperuricemiahepatomegaly and nephromegaly (from glycogen and fat deposition in liver and kidneys). Patient may have full cheeksrelatively thin extremitiesshort statureand protuberant abdomen.
WHEN TO SUSPECT
Recommendation 1
Genetic panel for mutations in G6PC and SLC37A4 required for diagnosis.
HOW TO TEST
Recommendation 1
Genetic panel for mutations in G6PC and SLC37A4 required for diagnosis.
TREATMENT
Recommendation 1
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.
FURTHER SUPPORT
Recommendation 1
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
Recommendation 1
One study in China is currently recruitingRecommendation 2
several trials are active but not currently recruiting.
Sources
No data available
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