Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
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Values are valid only on day of printing. |
Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis
This test is not suitable for carrier detection.
Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.
Careful review of clinical findings will help distinguish between GM1 gangliosidosis and Morquio syndrome type B.
A diagnosis of galactosialidosis must be additionally demonstrated by a deficiency of neuraminidase.
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.
Fluorometric