Inherited Metabolic Disorders SAICAR

SAICAR / Succinyladenosine.

Urinary SAICAR and succinyladenosine measurement by LC-MS/MS for diagnosis of purine synthesis defects.

Quick Reference
Method
LC-MS/MS
Sample Types
Urine
Analytes

2 analytes

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What does this test assess?

This method detects specific biomarkers for adenylosuccinate lyase (ADSL) deficiency and ATIC deficiency, two rare but clinically significant disorders of de novo purine synthesis.

Clinical indications include:

  • Diagnosis of adenylosuccinate lyase (ADSL) deficiency
  • Diagnosis of AICA-ribosiduria (ATIC deficiency)
  • Investigation of unexplained intellectual disability with epilepsy
  • Screening in consanguineous families with developmental delay

Measured analytes

Analyte coverage

SAICAR (succinylaminoimidazole carboxamide riboside) and succinyladenosine (S-Ado).

Analytical technique

Both analytes are measured simultaneously by LC-MS/MS from a single urine sample, providing high sensitivity and specificity for these rare disorder-specific biomarkers.

Frequently Asked Questions

What is saicar?

Saicar is an important biomarker for diagnosis of adenylosuccinate lyase (adsl) deficiency. Masdiag measures saicar using validated analytical methods to provide clinically actionable results.

Why is saicar important?

Saicar testing is valuable for Diagnosis of adenylosuccinate lyase (ADSL) deficiency, Diagnosis of AICA-ribosiduria (ATIC deficiency). Understanding saicar levels helps inform personalized health optimization and clinical decision-making.

How is the saicar sample collected?

Saicar is measured from blood. Professional collection ensures proper sample handling and accurate results.

Who should get a saicar test?

This test is recommended for individuals interested in diagnosis of adenylosuccinate lyase (adsl) deficiency. Masdiag saicar testing helps guide personalized supplementation and health optimization strategies based on objective biomarker data.

What do saicar results tell us?

Saicar results provide insight into your metabolic status and diagnosis of adenylosuccinate lyase (adsl) deficiency. Combined with clinical context, Masdiag results inform evidence-based interventions for personalized health optimization.

Interested in this method?

Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.