TABLE 1

Overview of Results From GAA Activity Tests

PatientBlood SpotDBSLymphocytes, GAA, nmol/mg Protein per hFibroblasts, GAA, nmol/mg Protein per h
GAA, μmol/L Wb per h (% of Normal Mean)NAG/GAA% tGAA Inhibition (tGAA − GAA)/tGAA), %
NBS1Original1.0 (6.4)6492
Second0.3 (2.7)102931.800.64
NBS2Original0.4 (2.3)148940.340.06
NBS3Original0.4 (2.4)101941.60
NBS4Original0.6 (3.5)133900.450.11
CLIN1Obtained at birth0.6 (3.4)8993
Obtained at time of clinical suspicion0.3 (2.2)155930.900.07
CLIN2Obtained at birth1.7 (10.5)5993
Obtained at time of clinical suspicion0.5 (3.7)108940.90
CLIN3Obtained at birth2.3 (14.1)4088
Obtained at time of clinical suspicion0.2 (1.5)205910.330.13