Sialic acid (urine)
Test performed as part of a urine metabolic screen where clinically indicated. Qualitiative test to assess the amount of sialated oligosaccharides (bound sialic acid) and free sialic acid (unbound) in urine. There are two main inborn errors of sialic acid metabolism, both of which are lysosomal storage disorders. Sialidosis (also known as sialidase deficency or neuraminidase deficiency) is an enzymatic defect resulting in the accumulation of bound sialic acid. Sialic acid storage disease (aka ISSD or Salla disease) is a lysosomal transporter defect resulting in accumulation of free sialic acid.
Presenting features may include cherry red spot, psychomotor retardation, ataxia, seizures, hypotonia, foetal hydrops.
Contact Biochemical Genetics laboratory for further advice if required.
| Tube | Plain Universal |
|---|---|
| ID | 29987 |
| Availability | Weekdays |
| Turn Around | 18 days |
| Send to | Specialist Laboratory Medicine Block 46 St James hospital Beckett Street Leeds LS9 7TF |
| Collection Con | Minimum volume: 1.5 mL (dependent on creatinine) Instructions for lab: Send to Block 46. If storage required (overnight or over the weekend) store refrigerated at 2-8°C. Please discuss with Biochemical Genetics lab prior to rejecting any samples. Samples may be referred to the Willink Biochemical Genetics Unit in Manchester for confirmation/quantitation. This is done by the Biochemical Genetics laboratory at Block 46 for abnormal samples. |
| Frequency | Weekly |
| Sample REQ | Urine |
| Ref. Range Notes | Descriptive report of results is provided. Contact Biochemical Genetics laboratory for further advice if required. |
| Telepath | Urine oligosaccharides and sialic acids: OLGU2J, Creatinine: CREU1J |
| ICE Codes | Urine oligosaccharides and sialic acids: LOLGU |
