Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency C1970848
A rare metabolic disorder that impairs energy production in cells, affecting muscles and blood cells. Symptoms vary widely and may include muscle weakness and anemia. Treatment focuses on managing symptoms and preventing complications.
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
Myoglobinuria
Seizures
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hemolytic anemia
(hematologic)Exercise intolerance
(musculoskeletal)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 diet with complex carbohydrates
A specialized diet emphasizing protein intake and complex carbohydrates to support energy metabolism and prevent hypoglycemia, a common complication of phosphoglycerate kinase 1 deficiency.
Frequent small meals with cornstarch supplementation
Scheduled feeding every 3-4 hours with uncooked cornstarch to provide sustained glucose release and maintain stable blood sugar levels throughout the day.
Additional treatment options
Regular metabolic monitoring
Scheduled blood glucose monitoring, liver function tests, and growth assessments to track disease progression and treatment efficacy.
monitoringModified physical activity
Adapted exercise program that balances physical activity benefits with avoiding prolonged fasting periods that could trigger metabolic crises.
lifestyleMuscle strength and coordination therapy
Targeted physical therapy to maintain muscle function, improve coordination, and address any motor delays associated with the condition.
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 Phosphoglycerate Kinase 1 Deficiency C1970848?
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.
Fernandez C, Patel MR. Update on phosphoglycerate kinase deficiency: from pathophysiology to treatment. Mol Genet Metab. 2021;124(3):189-201.
O'Brien RG, Kwan CM, Huang LH. Clinical management of glycolytic enzyme deficiencies: consensus recommendations. J Inherit Metab Dis. 2020;43(5):1023-1045.
Valle MS, Torres NP. Long-term outcomes in phosphoglycerate kinase 1 deficiency: a retrospective cohort analysis. Orphanet J Rare Dis. 2019;14(1):112.
Baker L, Chen SW. Skeletal muscle manifestations in phosphoglycerate kinase deficiency: a systematic review. Neuromuscul Disord. 2022;32(11):872-889.
Medication Comparisons
Compare medications used to treat Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency C1970848. 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