Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.

Objectives: Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria ( variants) and infantile sialic acid storage disease/Salla disease ( variants). Traditionally, UFSA has been measured using specific single-plex methodology in relatively small cohorts of patients with clinical symptoms suggestive of these disorders. The use of multiplex tandem mass spectrometry urine screening (UMSMS) has meant that UFSA can be measured semi-quantitatively in a much larger cohort of patients being investigated for suspected metabolic disorders. We hypothesised that the neuraminidase of may release free sialic acid from endogenous sialylated glycoconjugates and result in increased UFSA levels.

Methods: We conducted a retrospective review of clinical records of patients who were identified as having infection and who also had UMSMS at the time of their acute infection.

Results: We identified three cases of increased UFSA detected by UMSMS screening that were secondary to sepsis. Additional testing ruled out genetic causes of increased UFSA in the first patient. All three patients had overwhelming sepsis with multiorgan dysfunction which was fatal. Glycosylation abnormalities consistent with the removal of sialic acid were demonstrated in serum transferrin patterns in one patient.

Conclusions: We have demonstrated in a retrospective cohort that elevation of UFSA levels have been observed in cases of sepsis. This expands our knowledge of UFSA as a biomarker in human disease. This research demonstrates that infection with organisms with neuraminidase activity should be considered in patients with unexplained increases in UFSA.