Overview
Definition
An autosomal recessive glycogen storage disease (Type Ia) caused by glucose-6-phosphatase deficiency, leading to impaired glycogenolysis and gluconeogenesis.
Epidemiology
Accounts for 25% of all glycogen storage disease cases.
Etiology & Risk Factors
- G6PC gene mutations
- Inability to convert glucose-6-phosphate to glucose in liver and kidneys
Clinical Symptoms
- Severe fasting hypoglycemia
- Hepatomegaly (doll-like face)
- Hyperlactatemia
- Hyperuricemia (gout)
- Hyperlipidemia
Clinical Approach
Diagnosis
- Fasting challenge showing severe hypoglycemia and high lactate
- Gene sequencing of G6PC
Management
- Frequent feeding and raw cornstarch (provides slow-release glucose source)
- Avoidance of fructose and galactose
Complications
- Hepatic adenomas
- Gouty arthritis
- Renal failure
- Hypoglycemic seizures