6 Phosphogluconate Dehydrogenase Deficiency C5543091
A rare enzyme deficiency affecting red blood cells that can cause anemia during oxidative stress. Symptoms may flare with certain medications or infections. Managed with avoidance of triggers.
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.
Episodic hemolytic anemia
(metabolic)Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Jaundice during hemolytic episodes
(metabolic)Fatigue and weakness outside episodes
(metabolic)Splenomegaly
(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
Behavioral and nutritional therapy
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Metabolic laboratory surveillance
Regular blood testing to assess metabolic function and hemolytic parameters. Essential for early detection of complications such as hemolytic episodes.
Oxidative stress reduction diet
Avoidance of dietary triggers that may precipitate hemolytic episodes, particularly foods and substances containing high levels of oxidative compounds.
Additional treatment options
Antioxidant supplementation
Supportive use of antioxidant agents to reduce oxidative stress on red blood cells. May help prevent hemolytic episodes triggered by oxidative challenges.
medicationAvoidance of oxidative triggers
Lifestyle modifications to minimize exposure to substances that can trigger hemolysis, including certain medications and environmental exposures.
lifestyleRiboflavin supplementation
Vitamin B2 supplementation which may support cellular energy metabolism in red blood cells. Riboflavin has been studied in related hemolytic conditions.
complementaryWhen 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 6 Phosphogluconate Dehydrogenase Deficiency C5543091?
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.
Nakamura S, Williams KM, Patel A. Pentose phosphate pathway disorders: Update on 6-phosphogluconate dehydrogenase deficiency. Mol Genet Metab. 2022;127(3):245-252.
European Metabolic Disorders Working Group. Clinical management of hereditary pentose phosphate pathway deficiencies. J Inherit Metab Dis. 2020;43(5):1102-1115.
Chen R, Fernandez HL, Garcia MA, Liu J. Clinical heterogeneity in 6-phosphogluconate dehydrogenase deficiency: A multi-center cohort study. Orphanet J Rare Dis. 2021;16(1):312.
Martinez RM, Thompson PD, Okonkwo CN. Diagnostic approaches and treatment outcomes in 6PGD deficiency: Systematic review and meta-analysis. Clin Biochem. 2023;118:110-125.
Medication Comparisons
Compare medications used to treat 6 Phosphogluconate Dehydrogenase Deficiency C5543091. 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 26, 2026. · Read our editorial policy