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Clinical Chemistry 20: 383-386, 1974;
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Clinical Chemistry, Vol 20, 383-386, Copyright © 1974 by the American Association for Clinical Chemistry

Variables in the Laboratory Diagnosis of Fabry's Disease by Measurement of Methylumbelliferyl-agr-Galactosidase Activity

Marge A. Brewster 1, Steve A. Whaley 1, and Ann C. Kane 1

1 Division of Clinical Pathology and Biochemistry, University of Arkansas Medical Center, Little Rock, Ark. 72201.

Assay of methylumbelliferyl-agr-galactosidase activity (MUM-agr-Galase) in plasma reflects the activity of ceramide trihexosidase and (or) ceramide digalactosidase, which are deficient in Fabry's disease. Intending to institute this assay routinely, we have evaluated substrate stability and concentration, sample stability, heat-inactivation conditions, and normal values. The heat-labile isoenzyme(s) deficient in plasma from patients with Fabry's disease must either be assayed immediately after sampling or the plasma must be stored at or below -50 °C. This heat-labile fraction can be inactivated by incubating a plasma aliquot at 45 °C for 45 min. Normal adult ranges for total and heat-labile MUM-agr-Galase are 8.9-31.7 and 7.4-27.4 nmoles of MUM per hour per milliliter of EDTA-treated plasma.


Key Words: normal values • inherited disorders • fluorimetry

Submitted on October 29, 1973
Accepted on November 9, 1973






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Copyright © 1974 by the American Association for Clinical Chemistry.