Acetyl-CoA:glucosamine N-acetyltransferase, Heparan-N-sulfatase, alpha-N-acetylglucosaminidase, N-acetylglucosamine-6-sulfatase
Sanfilippo Syndrome (MPS III) Enzyme Panel
Sanfilippo Syndrome (MPS III) Enzyme Panel
This panel measures the activity of 4 enzymes in patients with a diagnosis or clinical suspicion of Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III). Each of these enzymes can also be ordered individually.
Sanfilippo syndrome A (MPS IIIA), Sanfilippo syndrome B (MPS IIIB), Sanfilippo syndrome C (MPS IIIC), Sanfilippo syndrome D (MPS IIID)
Clinical Information
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, and enzyme testing is recommended as an initial diagnostic test.
Technical Information
4-methylumbelliferyl (4-MU) substrate
Specimen Requirements
Whole Blood: A minimum of 5 mL (preferably 7-10 mL) whole blood collected in a sodium heparin tube.
Transport Instructions
Whole Blood: Whole blood should be shipped at ambient temperature.
Associated Tests
- Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis
- Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing
- Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis
- Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing
- Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis
- Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing
- Sanfilippo Syndrome D (MPS IIID): GNS Sequencing
- Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC