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ID:440 Sialic Acid (urine)
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DescriptionA 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 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 accumualtion of free sialic acid.
IndicationSuspicion of a lysosomal storage diease e.g: cherry red spot, psychomotor retardation, ataxia, seizures, hypotonia, fetal hydrops. Please contact Biochemical Genetics lab for more information.
Additional Info
Concurrent TestsRun wiith oligosaccharide analysis.
Dietary Requirementsna

InterpretationDescriptive qualitative report.

Ref. Range (Male)NA
Ref. Range (Female)NA
Ref. Range (Paed)NA
Ref. Range NotesQualitative descriptive report.
Units - Not Defined -

IP Acute TATRefer to Website
IP Routine TAT18 days
GP Acute TATRefer to Website
GP Routine TATRefer to Website
Turnround CommentNA
Originally edited by : RB. Last edited on 03/05/2020 10:53:20. Published By RB on 03/05/2019 10:53:20.