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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 [3, 39] [3, 16, 40] [17]
  1. *Reagents have been discontinued