Acid sphingomyelinase, alpha-iduronidase, beta-glucosidase
Mucolipidosis II/III Enzyme Panel (DBS)
Mucolipidosis II/III Enzyme Panel (DBS)
This panel measures the activity of 3 hydrolase enzymes. These types of enzymes can be elevated in patients with Mucolipidosis II/III.
Niemann-Pick disease, Hurler syndrome (MPS I), Gaucher 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 disease 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 and Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Specimen Requirements
DBS: Approximately 75 uL of blood should be applied to each of the five circles on filter paper dried blood spot card. Allow blood to dry for at least 4 hours before shipping.
Transport Instructions
DBS: Ship DBS card at ambient temperature.
Associated Tests
- Acid Sphingomyelinase Deficiency (ASMD): SMPD1 Sequencing
- Chitotriosidase Enzyme Analysis
- Gaucher Disease: Beta-glucosidase Enzyme Analysis
- Gaucher Disease: GBA Sequencing
- Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis
- Hurler Syndrome (MPS I): IDUA Sequencing
- Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)
- Niemann-Pick Disease A/B: Acid Sphingomyelinase 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