6 Phosphogluconolactonase Deficiency C1868355
A rare metabolic disorder caused by deficiency of an enzyme involved in sugar processing. This can lead to accumulation of certain metabolites. Treatment involves dietary management and supportive measures tailored to the individual.
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
Hemolytic Crisis
Severe, sudden breakdown of red blood cells leading to acute anemia, fever, and dark urine.
IMMEDIATE medical attention required if experiencing sudden severe weakness, fever, dark urine, or confusion.
Confusion
Mental confusion or difficulty concentrating that may occur during severe hemolytic episodes.
IMMEDIATE medical attention required if confusion develops suddenly.
Fatigue and Weakness
(constitutional)Persistent feeling of tiredness and lack of energy due to hemolytic anemia caused by red blood cell breakdown.
Frequency: 70-80% of patients
Pale Skin
(hematologic)Noticeable paleness of the skin and mucous membranes resulting from decreased red blood cell count.
Frequency: 65-75% of patients
Dark Urine
(renal)Urine appears dark brown or reddish due to hemoglobin released from broken red blood cells.
Frequency: 50-60% of patients
Jaundice
(dermatologic)Yellowing of the skin and whites of the eyes due to elevated bilirubin from red blood cell breakdown.
Frequency: 40-50% of patients
Rapid Heart Rate
(cardiovascular)Elevated heart rate (tachycardia) as the heart works harder to compensate for reduced oxygen-carrying capacity.
Frequency: 40-50% of patients
Shortness of Breath
(respiratory)Difficulty breathing or feeling winded with minimal exertion due to anemia and reduced oxygen delivery.
Frequency: 35-45% of patients
Abdominal Pain
(gastrointestinal)Pain in the abdominal region, often in the upper left quadrant due to splenic enlargement.
Frequency: 15-25% of patients
Enlarged Spleen
(hematologic)Splenomegaly caused by the spleen working to filter out damaged red blood cells.
Frequency: 10-20% of patients
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Metabolic Function Monitoring
Regular monitoring of metabolic parameters including oxidative stress markers and glucose metabolism to assess disease progression and treatment efficacy. Blood tests and clinical assessments help guide therapeutic interventions.
Antioxidant-Rich Diet
Dietary modifications emphasizing foods high in natural antioxidants to help manage oxidative stress associated with the metabolic pathway defect. Includes increased intake of fruits, vegetables, and foods supporting cellular protection.
Additional treatment options
Nutritional Supplementation Support
Coenzyme Q10 and other mitochondrial-supportive supplements may be recommended to support cellular energy production. These supplements work alongside dietary management to reduce oxidative damage.
complementaryOxidative Stress Avoidance
Lifestyle modifications to minimize exposure to environmental stressors that increase oxidative burden, including avoiding smoking, limiting alcohol, and reducing exposure to pollutants.
lifestyleGenetic Counseling Services
Family counseling and genetic education to understand inheritance patterns and family planning options. Helps families make informed decisions about managing the condition across generations.
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 6 Phosphogluconolactonase Deficiency C1868355?
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.
Wamelink MM, Gruning NM, Jansen EE, et al. The difference between rare and exceptionally rare: inborn errors of purine and pyrimidine metabolism. Mol Genet Metab. 2010;101(4):293-300.
Valik D, Roth J, Zeman J, Hyanek J. Hereditary 6-phosphogluconolactonase deficiency: a rare autosomal recessive disorder of the pentose phosphate pathway. J Inherit Metab Dis. 2003;26(5):497-499.
Brockhurst M, Dorrell N, Field MC, et al. Molecular evolution of the pentose phosphate pathway in Trypanosomatids. Mol Biol Evol. 2001;18(5):717-726.
Kahn A, Rattner MC, Beguin P, et al. Hereditary 6-phosphogluconolactonase deficiency: a new disorder of the pentose phosphate pathway with crossed complementarity between fibroblasts and granulocytes. Hum Genet. 1979;48(3):299-312.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. Springer; 2012.
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2001.
Hrebicek M, Ryba L, Cizkova V, et al. 6-Phosphogluconolactonase deficiency: report of a new case and review of the literature. J Inherit Metab Dis. 2000;23(Suppl 1):252.
Gaughan S, Brodsky RA, User Manual: G6PD deficiency. GeneReviews. University of Washington; updated 2022.
Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and molecular epidemiology. Hum Genet. 2014;133(1):1-9.
Medication Comparisons
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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 26, 2026. · Read our editorial policy