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Urinary sialic acid screening in neurologic disorders
J E Carroll1, R A Roesel, R H DuRant
1Department of Neurology, Medical College of Georgia, Augusta 30912.
Pediatric Neurology
|March 1, 1986
Summary
Urine sialic acid levels decrease with age. Elevated levels in some patients may indicate rare metabolic disorders, aiding in early diagnosis of sialic acid storage diseases.
Area of Science:
- Biochemistry
- Clinical Medicine
- Genetics
Background:
- Sialic acids are crucial components of glycoproteins and glycolipids.
- Abnormalities in sialic acid metabolism are linked to various genetic disorders.
- Age-related changes in sialic acid excretion are not fully understood.
Purpose of the Study:
- To investigate the relationship between age and urinary sialic acid excretion in patients with suspected neurodegenerative disorders.
- To identify potential metabolic disorders associated with abnormal sialic acid excretion.
Main Methods:
- Measured total, free, and bound sialic acid in urine samples from 246 patients.
- Analyzed excretion rates in relation to patient age.
- Identified patients with excretion rates exceeding 2 standard deviations above the mean.
Main Results:
- Urinary sialic acid excretion (total, free, and bound) significantly decreased with increasing patient age.
- Eleven patients (4.5%) exhibited elevated age-related excretion rates.
- Five of these patients were diagnosed with specific disorders including free sialic acid storage disease and mucolipidosis type II.
Conclusions:
- Urinary sialic acid levels serve as a potential biomarker for certain metabolic disorders.
- Age-adjusted sialic acid screening can aid in diagnosing sialidoses, mucolipidoses, and free sialic acid metabolism disorders.
- Further investigation is warranted for undiagnosed cases with abnormal sialic acid excretion.