Glycogen Storage Disease Due To Glucose 6 Phosphatase Deficiency Type Ia C2919796
A rare genetic disorder where the liver cannot release stored sugar into the blood, causing dangerously low blood sugar and liver enlargement. Children are most affected. Treatment involves frequent feeding and specialized diet.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent severe hypoglycemia
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatomegaly
(gastrointestinal)Hyperuricemia
(metabolic)Delayed puberty
(endocrine)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Frequent feeding with complex carbohydrates
Continuous or frequent feeding every 2-4 hours prevents severe hypoglycemia by providing steady glucose availability. Complex carbohydrates and glucose polymers are preferred over simple sugars to maintain stable blood glucose levels.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Uncooked cornstarch supplementation
Uncooked cornstarch provides slow-release glucose and is a cornerstone of GSD type 1 management. Doses are spaced throughout the day and night to maintain euglycemia. This therapy reduces the frequency of hypoglycemia and associated complications.
Additional treatment options
Allopurinol for hyperuricemia
GSD type 1 commonly causes elevated uric acid levels due to lactic acidosis competing for renal excretion pathways. Allopurinol reduces uric acid production and prevents gout and kidney stone formation.
medicationLipid-lowering therapy
Severe hypertriglyceridemia and hypercholesterolemia in GSD type 1 increase cardiovascular risk. Statins or fibrates may be prescribed when dietary management alone is insufficient to control lipid levels.
medicationGlucose monitoring and metabolic surveillance
Regular blood glucose monitoring, lactate levels, lipid panels, and uric acid measurements are essential. Liver ultrasound monitors for hepatic adenomas which can complicate GSD type 1. Growth and development tracking is crucial in children.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Glycogen Storage Disease Due To Glucose 6 Phosphatase Deficiency Type Ia C2919796?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy