Table 1. Patients and controls whose skin fibroblasts were studied.
| Characteristic | KD1 | KD2 | CTL1 | CTL2 | CTL3 |
|---|---|---|---|---|---|
| Sex | M | F | F | F | M |
| GALC genotype | c.[1687A>T];[1901T>C] p.[K563*];[L634S] |
c.[683_694delinsCTC];[857G>A] p.[N228_S232delinsTP];[G286D] |
N/A | N/A | N/A |
| Phenotype | Adult onset | Adult onset | Asymptomatic | Asymptomatic | Asymptomatic |
| Age at onset, yr | 12 | 30 | N/A | N/A | N/A |
| Age at biopsy, yr | 12 | 38 | 15 | 35 | 58 |
| Enzyme activity (nmol/hr/mg protein) a | 1.8 | 5.1 | N/A | N/A | N/A |
Enzyme activity indicates β-galactosylceramidase activity in lymphocytes.
CTL = control; F = Female; KD = Krabbe disease; M = male; N/A = not applicable
a
Healthy control enzyme activity = 50-150 nmol/hr/mg protein.