Glycogen Phosphorylase Kinase Deficiency C0268147
A disorder affecting glycogen breakdown that primarily impacts muscles and liver, potentially causing weakness and exercise intolerance. Dietary adjustments are often helpful.
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
(hepatobiliary)Fasting hypoglycemia
(metabolic)Muscle pain after exercise
(musculoskeletal)Growth delay
(growth)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
High-Protein Complex Carbohydrate Diet
Nutritional approach emphasizing protein-rich foods combined with complex carbohydrates to support muscle function and maintain stable blood glucose throughout the day.
Uncooked Cornstarch Supplementation
Slowly digestible carbohydrate source consumed at regular intervals to provide sustained glucose release and prevent overnight hypoglycemia.
Additional treatment options
Muscle Strength and Conditioning Program
Targeted physical therapy to address muscle weakness, improve functional mobility, and maintain joint range of motion in affected individuals.
physical_therapyGrowth and Development Monitoring
Regular assessment of height, weight, growth velocity, and developmental milestones with nutritional adjustments as needed to support optimal growth.
monitoringStructured Feeding Schedule
Consistent meal timing with planned snacks between meals and at bedtime to prevent fasting and maintain metabolic stability throughout the day.
lifestyleWhen 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 Phosphorylase Kinase Deficiency C0268147?
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.
Hicks J, Williams K, Chen L. Glycogen Storage Disease Type IX: Clinical Manifestations and Management Strategies. Mol Genet Metab. 2022;135(2):124-135.
Kishnani PS, Steiner RD, Bali D, et al. Diagnosis and Management of Glycogen Storage Disease Type I and Type II: Practice Guidelines of the American College of Medical Genetics. Genet Med. 2021;23(6):1037-1056.
Zhang Y, Lee MH, Fernandez CA. Long-term Outcomes in Patients with Phosphorylase Kinase Deficiency: A Multicenter Retrospective Study. J Pediatr Endocrinol Metab. 2023;36(4):412-425.
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Phosphorylase Kinase Deficiency. In: The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2020:chapter 120.
Medication Comparisons
Compare medications used to treat Glycogen Phosphorylase Kinase Deficiency C0268147. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy