|Test description||Sialic acid is a small chemical that serves as a component of a number of more complex chemical structures in the human body. A disturbance in a gene responsible for sialic acid metabolism may lead to an abnormality reflected in sialic acid concentration in urine. The abnormalities of sialic acid metabolism will almost always lead to both physical and mental deterioration.|
|Indications||Abnormalities of sialic acid metabolism may be suspected in infants with failure to thrive, growth concerns, developmental regression, hepato-splenomegaly, coarsening facial features, and/or hair/skin pigmentation failure.|
|Methodology||Total and free sialic acid is measured by the barbituric acid method and results are compared with controls run concurrently.|
|Specimen Requirements||To rule out a sialic acid storage disorder, >10 ml of urine is required.|
|Transport||Urine should be sent frozen on dry ice by courier or 24 hour delivery service.|
|Turnaround time||21 days|
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.