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 yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
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
Clinical Trials
Sources
No data available
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