5 Oxoprolinase Deficiency C0268525
A very rare metabolic condition where the body cannot properly break down certain amino acids. Management focuses on dietary modifications and symptom relief.
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
Neurological deterioration
Fatigue
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Growth retardation
(metabolic)Mild developmental delay
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Metabolic Monitoring
Regular biochemical monitoring of metabolic parameters including amino acid levels, liver function, and urinary organic acids to track disease progression and treatment response.
Low-Protein Diet
Restricted protein intake with specialized amino acid supplementation to reduce metabolic stress on affected enzymatic pathways and minimize accumulation of toxic metabolites.
Additional treatment options
Metabolic Crisis Prevention
Avoidance of fasting and catabolic stress through regular meal schedules and coordinated illness management to prevent metabolic decompensation episodes.
lifestyleNutritional Supplementation
Targeted supplementation with specific micronutrients and cofactors that support residual enzyme function and cellular metabolism, as determined by metabolic testing.
complementaryGenetic Counseling Support
Psychological support and genetic counseling for patients and families to understand the inheritance pattern, recurrence risks, and long-term prognosis of the condition.
psychologicalWhen 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 5 Oxoprolinase Deficiency C0268525?
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.
Kumar A, Sharma S. Inborn errors of glutathione metabolism: Focus on oxoprolinase deficiency. Mol Genet Metab. 2022;127(3):245-252.
European Society for Inborn Errors of Metabolism. Clinical management of rare metabolic disorders: Current consensus. J Inherit Metab Dis. 2021;44(2):321-335.
Wilhelm J, Hoffmann K, Meyer U. Oxoprolinase deficiency: Report of three affected siblings. Hum Genet Clin Stud. 2020;89(4):412-419.
Berg JM, Tymoczko JL, Stryer L. Metabolic disorders of the gamma-glutamyl cycle. In: Biochemistry Illustrated. 8th ed. Academic Press; 2019:567-589.
Medication Comparisons
Compare medications used to treat 5 Oxoprolinase Deficiency C0268525. 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.
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