Glutathione Synthetase Deficiency With 5 Oxoprolinuria C0398746
A metabolic condition where the body cannot produce enough glutathione, an important antioxidant. It can cause severe metabolic acidosis, neurological problems, and increased susceptibility to infections.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Metabolic acidosis
Recurrent bacterial infections
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hemolytic anemia
(metabolic)Ataxia
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
N-acetylcysteine supplementation
N-acetylcysteine serves as a glutathione precursor to help replenish depleted glutathione stores and reduce 5-oxoproline accumulation. This oral supplement supports antioxidant defense mechanisms that are compromised in glutathione synthetase deficiency.
Sodium bicarbonate for metabolic acidosis
Chronic metabolic acidosis is common in glutathione synthetase deficiency due to 5-oxoproline accumulation. Sodium bicarbonate supplementation helps maintain normal blood pH and prevents complications of chronic acidosis such as bone demineralization.
Additional treatment options
Antioxidant-rich diet
A diet emphasizing antioxidant-rich foods including fresh fruits, vegetables, and vitamin E sources helps reduce oxidative stress. Foods containing natural glutathione precursors such as sulfur-containing vegetables may provide additional benefit.
dietaryRegular metabolic and biochemical monitoring
Periodic monitoring of 5-oxoproline levels, acid-base balance, liver function, and growth parameters is essential. Regular assessment allows for treatment adjustment and early detection of complications.
monitoringOxidant avoidance
Avoiding exposure to environmental oxidants and oxidizing drugs reduces glutathione demand and prevents metabolic decompensation. This includes minimizing exposure to air pollutants, certain chemicals, and discussing medication safety with healthcare providers.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Glutathione Synthetase Deficiency With 5 Oxoprolinuria C0398746?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy