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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. 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.
Specimen requirements: Enzymes are measured from plasma
drawn in a sodium heparin tube.
Transport: Plasma should be shipped overnight or spun
down and shipped frozen. Standard of analysis: Assay will employ the
4-methylumbelliferyl substrate for β-galactosidase, total hexosaminidase, β-glucosidase,
as well as arylsulfatase A activity.
Time required: Most assays will be complete in one week
Special requests: Any type of special request must be
made directly with the laboratory.
Report: Written reports with interpretation are mailed
to the referring physician. Abnormal results will also be telephoned to the
referring physician.
CPT Code: 82657 (X4) |
