|
Sialidosis is caused by a deficiency of α-neuraminidase. This
deficiency prevents the breakdown of glycoproteins containing sialic acid
residues. Type I sialidosis presents in the second or third decade with
myoclonic epilepsy, vision problems, and ataxia. Macular cherry red spots have
been seen in all type I patients. Type II sialidosis presents either
congenitally with hydrops, or in infancy with progressive coarsening of facial
features, developmental delay and dysostosis multiplex.
Specimen requirements: α-neuraminidase can be measured
from fibroblasts.
Transport: Please contact the laboratory before
transporting tissue for an enzyme assay. Fresh tissue for culture should be sent
by courier or 24-hour delivery
Standard of analysis: Assay will employ the
4-methylumbelliferyl substrate
Time required: Most assays will be complete in two
weeks. Special requests: Any type of special request must be made directly with
the laboratory.
Report: Written reports with interpretation are mailed
to the referring physician. Abnormal results will also be telephoned to the
referring physician.
CPT Code: 82657
|
