Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis

Turnaround Time

2 weeks

CPT Code(s)

82657

Cost

$200

Enzymes

• Sanfilippo syndrome C (MPS IIIC)

Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders. Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient�s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test.

There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient's cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel.

4-methylumbelliferyl substrate

Enzyme activity can be measured in leukocytes or cultured fibroblasts. For leukocytes, please send 5-7 ml of whole blood in a green top (sodium heparin) tube.

Whole blood should be sent over overnight at ambient temperature. Do not freeze whole blood. Samples for enzyme analysis must arrive to the lab the next day. Cultured fibroblasts can be sent overnight at room temperature.