Table 1 DBS based GALC enzyme assays for KD-NBS
From: Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Assay Platform | MS/MS | MS/MS | Fluorometry |
|---|---|---|---|
Marker | GALC activity | GALC activity | GALC activity |
Substrate | Synthetic analog of galactosylceramide containing a C8-fatty acyl chain; after incubation with GALC, releases novel ceramide | Synthetic analog of galactosylceramide containing a C7-fatty acyl chain; after incubation with GALC, releases novel ceramide | Artificial fluorogenic compound; after incubation with GALC, releases 4-MU analog that is measured fluorometrically |
States using assay | -* | IL, KY, NY, OH | MO |
Reference | [17] |