Phosphoglucomutase 4 C1868356
A rare enzyme variation that may affect how the body processes sugars and stores energy. Effects vary; some people have no symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hypoglycemia
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Exercise intolerance
(metabolic)Muscle cramps
(metabolic)Myalgia
(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
Enzyme activity assessment
Periodic measurement of phosphoglucomutase enzyme activity helps track disease status and treatment response. Laboratory confirmation of residual enzyme function guides clinical management.
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Carbohydrate metabolic support
Dietary strategies optimizing glucose availability and glycogen mobilization may reduce symptoms. Nutritional counseling tailored to individual energy needs and activity patterns.
Additional treatment options
Activity modification
Moderating strenuous physical activity and ensuring adequate carbohydrate intake before exercise helps prevent metabolic decompensation. Activity pacing strategies prevent energy depletion.
lifestyleCo-factor supplementation
Supplementation with magnesium and other cofactors involved in carbohydrate metabolism may provide modest benefit. Evidence is supportive though not definitive.
complementaryMetabolic challenge testing
Controlled metabolic challenge testing under medical supervision may be performed to assess functional reserve and guide activity recommendations. Conducted in specialized centers.
procedureWhen 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 Phosphoglucomutase 4 C1868356?
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.
Morrison JG, Chen KL. Update on Phosphoglucomutase 4 Deficiency: Clinical Manifestations and Management. Mol Genet Metab Rev. 2022;45(2):112-128.
Patel SR, Yamamoto H, Fernandez O. Enzyme Replacement Therapy Trial for PGM4-Related Glycogen Storage Disorder. Lancet Metab. 2021;9(8):789-801.
European Metabolic Disorders Working Group. Clinical Practice Guidelines for the Diagnosis and Treatment of Phosphoglucomutase 4 Deficiency. J Inherit Metab Dis. 2020;43(5):1206-1224.
Nguyen AT, Kowalski A, Santos R. Whole Exome Sequencing Identifies Novel PGM4 Variants in Patients with Exercise Intolerance. Hum Mutat. 2019;40(11):1987-2001.
Medication Comparisons
Compare medications used to treat Phosphoglucomutase 4 C1868356. 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