Test performed as part of a urine metabolic screen where clinically indicated. Qualitative 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 deficiency 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
Centre for Laboratory Medicine
St James hospital
Beckett Street
Leeds
LS9 7TF
Contact
For further details please contact Leeds Pathology customer services: [email protected].
Collection Con
Minimum volume: 1.5 mL (dependent on creatinine)
Instructions for the lab: Send to Centre for Laboratory Medicine. If storage required (overnight or over the weekend) store refrigerated at 2 to 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
A descriptive report of results is provided. Contact Biochemical Genetics laboratory for further advice if required.