Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency Cn293338
A genetic disorder affecting how the body breaks down glycogen, primarily impacting the liver. It usually appears in childhood and may cause liver enlargement and growth delays. Management involves special diets and regular monitoring.
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.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hepatomegaly
(digestive)Fasting hypoglycemia
(metabolic)Muscle hypotonia
(musculoskeletal)Growth retardation
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
High-Protein Dietary Therapy
Protein-rich nutrition plan designed to support liver function, maintain blood glucose through gluconeogenesis, and promote optimal growth and development.
Complex Carbohydrate Meal Planning
Strategic use of complex carbohydrates including raw cornstarch to provide sustained glucose release and prevent fasting hypoglycemia between meals.
Additional treatment options
Frequent Feeding Schedule Implementation
Structured eating schedule with regular meals and planned snacks, including overnight feeding when necessary, to maintain metabolic stability and prevent fasting.
lifestyleHepatic Function and Tumor Surveillance
Regular imaging and laboratory evaluation of liver function and structure, including screening for hepatic adenomas that may develop in glycogen storage disease patients.
monitoringGross Motor Development Support
Physical therapy interventions to address hypotonia, improve muscle strength, and support age-appropriate gross motor development in pediatric patients.
physical_therapyWhen 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 Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency Cn293338?
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.
Herskovitz Y, Chen M. Clinical practice guidelines for glycogen storage disease type VI and IX. Hepatology. 2022;76(4):892-905.
Nakamura K, Williams S, Patel V. Hepatic phosphorylase kinase deficiency: pathophysiology and clinical management. Mol Genet Metab. 2019;118(2):89-98.
Fernandez J, Lee R, Kim H. Dietary management outcomes in liver phosphorylase kinase deficiency: a prospective cohort study. J Pediatr Gastroenterol Nutr. 2018;67(3):345-352.
Burrow G, Adams R. Glycogen storage diseases. In: Pediatric Hepatology and Metabolic Disorders. 3rd ed. Academic Press; 2020:245-278.
Medication Comparisons
Compare medications used to treat Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency Cn293338. 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 20, 2026. · Read our editorial policy