Mucolipidosis II/III (Plasma Screen)

Disease names Mucolipidosis II/ I-Cell disease
Mucolipidosis IIIA/ Pseudo-Hurler Polydystrophy
Clinical info Mucolipidosis II (ML II), also known as I-Cell disease, and Mucolipidosis IIIA (ML IIIA), also known as Pseudo-Hurler Polydystrophy, are lysosomal storage disorders 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.
Methodology The activity of 3 lysosomal hydrolases are measured in plasma. The assay uses 4-methylumbelliferyl substrates to measure the activities of total hexosaminidase, beta-glucuronidase and alpha-fucosidase. Prenatal diagnosis and carrier testing via enzyme analysis are not available.
Associated Tests Molecular analysis of the gene for ML II/III (GNPTAB) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.
Specimen Requirements Enzymes are measured from plasma drawn in a sodium heparin tube
Transport Blood should be shipped overnight or separated plasma should be shipped frozen.
Turnaround time 10 days
CPT Codes 82657 (X2)
Cost $400
Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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