Skip to content

Deficiency Of Phosphoglycerate Kinase C0684324

Published: July 22, 2026Updated: August 25, 2026

A rare X-linked genetic disorder affecting energy production in red blood cells, causing hemolytic anemia of varying severity. Some affected individuals may also experience neurological or muscle symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

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

Hemolytic anemia

(metabolic)

Exercise intolerance

(metabolic)

Muscle weakness

(metabolic)

Myoglobinuria

(metabolic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Folic Acid Supplementation

Long-term folic acid supplementation to support bone marrow function and compensate for chronic hemolysis. Essential for maintaining adequate erythropoiesis.

dietary
2

Lifestyle modification and dietary intervention

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Neurologic and Hematologic Surveillance

Comprehensive monitoring for both hematologic manifestations (anemia, hemolysis) and neurologic complications including seizures, ataxia, and developmental delay.

monitoring

Additional treatment options

Oxidative Trigger Avoidance

Pharmacologic and dietary counseling to avoid oxidative stressors that can precipitate hemolytic crises, including certain medications and fava beans.

medication

Transfusion Therapy

Red blood cell transfusion for severe symptomatic anemia or before surgical procedures. May be needed more frequently during infections or physiologic stress.

medication

Developmental Support

Physical and occupational therapy for patients with neurologic involvement to maintain function, improve coordination, and support developmental milestones in children.

physical_therapy

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Deficiency Of Phosphoglycerate Kinase C0684324?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Hoffbrand AV, Steensma DP. Erythrocyte enzyme deficiencies: British Society for Haematology guidelines. Br J Haematol. 2022.

guideline2022
2

Beutler E, Gelbart T, Lerner RA. Advances in understanding the pathophysiology of phosphoglycerate kinase deficiency. Hematology. 2021.

review2021
3

Valentino ML, Terrile G, Maresca A. Clinical manifestations and genotype-phenotype correlations in phosphoglycerate kinase deficiency: a multicenter retrospective study. Blood Cells Mol Dis. 2020.

clinical_trial2020
4

Schroeder SA, Markham S, Patel H. Neurological manifestations in phosphoglycerate kinase deficiency: systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2019.

meta_analysis2019

Medication Comparisons

Compare medications used to treat Deficiency Of Phosphoglycerate Kinase C0684324. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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