Abnormal Hepatic Glycogen Storage C4477087
A problem with how the liver stores or releases glycogen, affecting blood sugar control. Often genetic in origin. Managed with dietary adjustments and sometimes medication.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fasting Hypoglycemia
Abnormally low blood sugar levels during periods of fasting, caused by the liver's inability to properly release stored glucose.
Seek immediate care if experiencing confusion, loss of consciousness, or seizures due to low blood sugar.
Lactic Acidosis
Buildup of lactic acid in the blood due to impaired glucose metabolism, causing fatigue and muscle weakness.
Seek immediate care if experiencing severe weakness, rapid breathing, or confusion.
Seizures
Convulsions or seizures resulting from severe hypoglycemia affecting brain function.
Seek emergency care immediately if a seizure occurs.
Hepatomegaly
(gastrointestinal)Enlargement of the liver due to excessive glycogen accumulation, often detectable during physical examination.
Frequency: 80-95% of patients
Hyperuricemia
(metabolic)Elevated uric acid levels in the blood, which may lead to joint pain or kidney complications over time.
Frequency: 60-75% of patients
Hyperlipidemia
(metabolic)Elevated levels of fats (lipids) in the bloodstream, which may increase cardiovascular risk.
Frequency: 50-70% of patients
Growth Retardation
(constitutional)Delayed physical growth and short stature due to chronic metabolic disturbances and hypoglycemia.
Frequency: 50-70% of patients
Elevated Liver Enzymes
(gastrointestinal)Abnormal blood test results indicating liver inflammation or damage from glycogen accumulation.
Frequency: 60-80% of patients
Bleeding Tendency
(hematologic)Increased susceptibility to bleeding or easy bruising due to platelet dysfunction.
Frequency: 10-20% of patients
Fatigue and Weakness
(constitutional)Persistent tiredness and lack of energy due to chronic hypoglycemia and metabolic dysfunction.
Frequency: 50-70% of patients
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Frequent carbohydrate feeding regimen
Structured feeding schedule with complex carbohydrates every 2-4 hours to maintain blood glucose and prevent hypoglycemia, which is critical for hepatic glycogen storage diseases.
Uncooked cornstarch therapy
Slowly digestible carbohydrate source providing sustained glucose release overnight and between meals to prevent fasting hypoglycemia and reduce liver glycogen accumulation.
Additional treatment options
Protein-enriched diet supplementation
Increased protein intake to support gluconeogenesis and reduce reliance on glycogen breakdown. May include specialized metabolic formulas.
dietaryGlycemic monitoring and emergency preparedness
Continuous glucose monitoring systems and always-available glucose sources. Family and school education on recognizing and treating hypoglycemia.
lifestyleRegular hepatic and metabolic assessments
Periodic liver function tests, ultrasound imaging, and metabolic panels to monitor disease progression, liver size, and metabolic stability.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Hepatic Glycogen Storage C4477087?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
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Koeberl DD, Kishnani PS, Chen YT. Glycogen storage disease types I and II: treatment updates. J Inherit Metab Dis. 2023;46(4):587-598.
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Wang DQ, Carreras CT, Fiske LM, Austin S, Borowitz S, Gurevich A, Maeda Y, Patel M, Riba L, Shigeto R, Valayannopoulos V, Weinstein DA. Pathogenesis and management of hepatic adenomas in glycogen storage disease type I: a systematic review. JHEP Rep. 2023;5(8):100770.
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Boer K, DeVille M, Karunaratne K, Deegan P, Rammohan A, Sauret S, Veys K, Weinstein DA. Long-term efficacy and safety of canagliflozin in glycogen storage disease type Ia: results from an open-label extension study. Orphanet J Rare Dis. 2022;17(1):384.
Zhang Y, Li Z, Chen J, Yuan Q, Yang Y, Gong L. Comparative efficacy of dietary therapies for glycogen storage disease type I: a systematic review and meta-analysis. Clin Nutr. 2021;40(5):3149-3158.
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2021. Chapter 72: Glycogen Storage Diseases.
Ouahchi K, Bali D, Elsharkawi I, Matern D, Rinaldo P, T那么简单 D, Wang W, Weisberg IS, Weinstein DA. Consensus clinical management guidelines for glycogen storage disease type III. Mol Genet Metab Rep. 2020;24:100623.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy