Table 1. Results of newborn screening,... | American Society of Hematology

Table 1.

Results of newborn screening, confirmatory testing, and pretransplant studies

Study or testing	Patient (normal values)
Study or testing	1	2	3	4	5	6
GALC enzyme activity assayed on DBS sample, in nmol/mL/h	0.11 (⁠ $>$ 0.55)	0.1 (⁠ $>$ 0.4)	0.01 (⁠ $>$ 0.4)	0.03 (⁠ $>$ 0.55)	0.15 (⁠ $>$ 0.4)	10% (⁠ $>$ 13% of daily mean value)
GALC enzyme activity in leukocytes, in nmol/mL/mg protein	0.05 (⁠ $>$ 0.15)	0.03 (⁠ $>$ 0.15)	0.01 (⁠ $>$ 0.15)	0.34 (⁠ $\geq$ 1.2)	0.09 (⁠ $>$ 0.15)	0.61 (⁠ $>$ 1.2)
Psychosine assayed on DBS sample, in nmol/L	24 (⁠ $<$ 2)	61 (⁠ $<$ 2)	56 (⁠ $<$ 3)	73 (⁠ $<$ 2)	38 (⁠ $<$ 3)	35 (⁠ $<$ 2)
Protein, CSF in mg/dL	117	386	348	332	444	446
Mutation analysis	c.379C $>$ T (p.R127X); Del30kb	c.1884dupA (p.Trp629fs); del exon 8 (entire)-exon 9 (portion)	Del30kb; Del30kb	c.387C $>$ G (p.Tyr129Ter)	c.1270C $>$ T, (p.Gln424Ter); Del30kb	c.1723_1724insT (p.G575Vfs*10); c.1913G (p.G638V)
MRI	Abnormal	Normal	Abnormal	Normal	Normal	Abnormal
NCS	Abnormal	Abnormal	Abnormal	Abnormal	Abnormal	Not done
BAER	Abnormal	Abnormal	Abnormal	Abnormal	Abnormal	Not done
VEP	Abnormal	Abnormal	Normal	Normal	Normal	Not done
EEG*	ESTs	Normal	ESTs	ESTs	Normal	ESTs
Total number of abnormal studies	4	3	3	2	2	1

Study or testing	Patient (normal values)
Study or testing	1	2	3	4	5	6
GALC enzyme activity assayed on DBS sample, in nmol/mL/h	0.11 (⁠ $>$ 0.55)	0.1 (⁠ $>$ 0.4)	0.01 (⁠ $>$ 0.4)	0.03 (⁠ $>$ 0.55)	0.15 (⁠ $>$ 0.4)	10% (⁠ $>$ 13% of daily mean value)
GALC enzyme activity in leukocytes, in nmol/mL/mg protein	0.05 (⁠ $>$ 0.15)	0.03 (⁠ $>$ 0.15)	0.01 (⁠ $>$ 0.15)	0.34 (⁠ $\geq$ 1.2)	0.09 (⁠ $>$ 0.15)	0.61 (⁠ $>$ 1.2)
Psychosine assayed on DBS sample, in nmol/L	24 (⁠ $<$ 2)	61 (⁠ $<$ 2)	56 (⁠ $<$ 3)	73 (⁠ $<$ 2)	38 (⁠ $<$ 3)	35 (⁠ $<$ 2)
Protein, CSF in mg/dL	117	386	348	332	444	446
Mutation analysis	c.379C $>$ T (p.R127X); Del30kb	c.1884dupA (p.Trp629fs); del exon 8 (entire)-exon 9 (portion)	Del30kb; Del30kb	c.387C $>$ G (p.Tyr129Ter)	c.1270C $>$ T, (p.Gln424Ter); Del30kb	c.1723_1724insT (p.G575Vfs*10); c.1913G (p.G638V)
MRI	Abnormal	Normal	Abnormal	Normal	Normal	Abnormal
NCS	Abnormal	Abnormal	Abnormal	Abnormal	Abnormal	Not done
BAER	Abnormal	Abnormal	Abnormal	Abnormal	Abnormal	Not done
VEP	Abnormal	Abnormal	Normal	Normal	Normal	Not done
EEG*	ESTs	Normal	ESTs	ESTs	Normal	ESTs
Total number of abnormal studies	4	3	3	2	2	1

DBS, dried blood spot; PCR, polymerase chain reaction.

ESTs were not considered abnormal for this purpose.