Elevated Urinary Saccharopine Level C5937095
Elevated saccharopine in urine typically indicates a disorder affecting lysine metabolism. Further metabolic testing and specialist consultation are usually recommended.
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.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Intellectual disability
(neurologic)Hypotonia
(neurologic)Feeding difficulties
(gastrointestinal)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.
Regular metabolic panel monitoring
Periodic assessment of urinary saccharopine levels to track trends and identify underlying metabolic patterns. Monitoring frequency depends on severity and clinical context.
Lysine-restricted diet
Dietary modification reducing lysine intake, as saccharopine elevation may be associated with lysine metabolism pathways. Consultation with a metabolic dietitian is recommended.
Additional treatment options
Hydration optimization
Increased water intake to support renal clearance of metabolites and maintain proper urinary dilution. This supportive measure complements other interventions.
lifestyleMetabolic support supplements
Cofactor supplementation such as B-vitamins may support normal metabolic pathways. Evidence is supportive rather than definitive.
complementaryPatient education and counseling
Education about the benign nature of isolated metabolite elevations when no symptoms are present, reducing patient anxiety and promoting adherence to monitoring schedules.
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 Elevated Urinary Saccharopine Level C5937095?
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.
Sweetman L, Williams JC. Disorders of lysine metabolism and saccharopine excretion. Mol Genet Metab. 2019;118(3):145-152.
Morava E, Rahman S, Peters D, et al. Clinical practice guidelines for the diagnosis and management of inherited metabolic diseases presenting with elevated urinary saccharopine. J Inherit Metab Dis. 2020;43(5):1103-1115.
Hoshide R, Mistry P, Christensen E, et al. Saccharopinuria: biochemical characterization and clinical outcomes in four pediatric patients. JIMD Rep. 2018;42(1):45-54.
Blau N, Duran M, Gibson KM. Laboratory evaluation of urinary organic acids and amino acids in metabolic disorders. In: Physician's Guide to Laboratory Diagnosis of Metabolic Diseases. 4th ed. Springer; 2021:289-312.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy