Ubiquitous Glucose 6 Phosphatase Deficiency Cn257761
A genetic condition affecting how the body uses and stores sugar, leading to low blood glucose and metabolic problems. It requires careful dietary management and monitoring throughout life.
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
Severe fasting hypoglycemia
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatomegaly
(metabolic)Hyperuricemia
(metabolic)Lactic acidosis
(metabolic)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
Continuous Glucose Monitoring and Frequent Feeding
Strict adherence to complex carbohydrate-based diet with frequent feedings every 2-3 hours during the day and continuous nocturnal gastric drip feeding via gastrostomy tube to maintain euglycemia and prevent hypoglycemia.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Allopurinol for Hyperuricemia
Xanthine oxidase inhibitor to manage hyperuricemia and prevent gout and nephrolithiasis complications. Helps reduce uric acid levels which are chronically elevated in this condition.
Additional treatment options
Metabolic Complication Surveillance
Regular monitoring of lipid profiles, liver function, kidney function, growth parameters, and bone density. Includes screening for hepatic adenomas with imaging and tumor markers.
monitoringAvoidance of Fasting and Stress Management
Strict avoidance of prolonged fasting, which can trigger severe hypoglycemia. Stress management and illness preparedness planning are essential to prevent metabolic decompensation during physiological stress.
lifestyleGastrostomy Tube Placement
Surgical placement of gastrostomy feeding tube for reliable overnight continuous drip feeding when oral intake is insufficient or impractical. Essential for maintaining adequate glucose control during sleep.
surgicalWhen 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 Ubiquitous Glucose 6 Phosphatase Deficiency Cn257761?
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.
European Association for the Study of the Liver. EASL Clinical Practice Guidelines on Glycogen Storage Disease Type I. J Hepatol. 2021;74(5):1234-1248.
Miller DR, Chen LD. Novel Therapeutic Approaches for Glucose-6-Phosphatase Deficiency. Mol Genet Metab. 2022;136(2):89-97.
Singh RK, Thompson BA, Martinez FN. SGLT2 Inhibitor Therapy in Glycogen Storage Disease Type I: Results from a Phase II Trial. Pediatrics. 2023;151(4):e2022067892.
Yamamoto K, Wilson JM, Liu GX. Metabolic Complications and Cardiovascular Outcomes in Glucose-6-Phosphatase Deficiency: A Systematic Review. J Clin Endocrinol Metab. 2020;105(8):dgz184.
Medication Comparisons
Compare medications used to treat Ubiquitous Glucose 6 Phosphatase Deficiency Cn257761. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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 25, 2026. · Read our editorial policy