alpha-fucosidase, beta-glucuronidase, beta-hexosaminidase
Mucolipidosis II/III Enzyme Panel (Plasma)
Mucolipidosis II/III Enzyme Panel (Plasma)
This panel measures the activity of 3 hydrolase enzymes. These types of enzymes can be elevated in patients with Mucolipidosis II/III.
Fucosidosis, Sly syndrome (MPS VII), Tay-Sachs disease/Sandhoff disease
Clinical Information
Mucolipidosis II (ML II), also known as I-Cell disease, and Mucolipidosis IIIA (ML IIIA), also known as Pseudo-Hurler Polydystrophy, are lysosomal storage diseases caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (NAPT). ML II is associated with a more severe course including growth failure and failure to thrive, severe developmental delay, coarse facial features, skeletal anomalies and frequent upper respiratory infections. ML II is often lethal in childhood. ML IIIA is associated with a similar, but milder course with a wider spectrum of features and severity. In ML II and ML IIIA, lysosomal hydrolase enzymes are not properly targeted to the lysosome. Therefore, the enzyme activity of multiple lysosomal hydrolases is increased in plasma and other body fluids.
Technical Information
4-methylumbelliferyl (4-MU) substrate
Specimen Requirements
Plasma: A minimum of 3 mL whole blood collected in a sodium heparin tube; or blood can be centrifuged and a minimum of 1 mL plasma removed and sent for analysis.
Transport Instructions
Plasma: Plasma should be frozen after collection and shipped frozen, preferably on dry ice. Whole blood should be shipped at ambient temperature.
Associated Tests
- Fucosidosis: Alpha-fucosidase Enzyme Analysis
- Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis
- Sly Syndrome (MPS VII): GUSB Sequencing
- Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)
- Tay-Sachs Disease: HEXA Sequencing
- Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase 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