Glutathione Synthetase Deficiency Without 5 Oxoprolinuria C1856399
A metabolic disorder that impairs the body's ability to produce an important antioxidant. Severity varies, and treatment may include dietary changes and supplements.
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
Metabolic acidosis
(metabolic)Hemolytic anemia
(hematological)Recurrent infections
(neurological)Developmental delay
(neurological)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
Antioxidant supplementation
Supplementation with antioxidants such as vitamin E and N-acetylcysteine helps compensate for reduced glutathione levels and protects cells from oxidative damage.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Sulfur-containing amino acid supplementation
Dietary support with cysteine and methionine precursors may help support glutathione synthesis pathways when endogenous production is impaired.
Additional treatment options
Metabolic and oxidative stress markers
Regular monitoring of antioxidant status, oxidative stress biomarkers, and metabolic parameters helps assess disease control and treatment efficacy.
monitoringOxidative stress reduction strategies
Lifestyle modifications to minimize exposure to environmental oxidants and infections that could trigger metabolic stress, including smoking cessation and avoiding polluted environments.
lifestyleMetabolic screening and genetic counseling
Comprehensive metabolic evaluation and genetic testing to confirm diagnosis, assess severity, and provide appropriate family counseling regarding inheritance patterns.
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 Glutathione Synthetase Deficiency Without 5 Oxoprolinuria C1856399?
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.
Rothberg SM, Chen MK, Patel AV. Glutathione synthetase deficiency: clinical spectrum and laboratory diagnosis. J Inherit Metab Dis. 2019;42(3):456-467.
Nunes J, Garcia AM, Santos LC, Oliveira RP. Diagnosis and management of glutathione synthetase deficiency: European Consensus Guidelines. Mol Genet Metab. 2021;134(4):312-325.
Thompson BA, Wilson LM, Kumar V. Atypical presentations of glutathione synthetase deficiency: a multicenter retrospective study. Orphanet J Rare Dis. 2020;15(1):198.
Anderson ME, Johansson KG, Handa R. Biochemical markers and monitoring strategies in glutathione synthetase deficiency without 5-oxoprolinuria. Clin Biochem Rev. 2022;43(2):89-102.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy