Table 1.

Patient (N= 22)	Diagnosis	Gender	Genotype	Age at First Sample Draw (months)	Age at Last Sample Draw (months)	Number of Serum Samples	Number of CSF Samples
A	Infantile Sandhoff	F	c.901G>C (p.G301R) (exon 7)	34	34	1	1
			Unknown
B	Infantile Sandhoff	F	Unknown	14	14	1	1
			Deletion of exons 1-5 Deletion of exons 4-5
C	Infantile Tay-Sachs	M	IVS9+1G>A	17	31	5	5
			IVS9+1G>A
D	Infantile Tay-Sachs	F	c.986+9A>G (intron 8)	18	18	1	1
			c.1073+1G>A (intron 9)
E	Infantile Tay-Sachs	F	c.929_930delCT	22	36	3	3
			c.1073+1G>A
F	Juvenile Tay-Sachs	F	c.1274_1277dupTATC (exon 11)	85	122	3	5
			c.1382G>T(p.G461V) (exon 12)
G	Juvenile Tay-Sachs	F	c.77G>QA	103	123	2	3
			c.1496G>A
H	Late-Onset Tay-Sachs	M	G269S	566	566	1	0
			G269S
I	Infantile GM1 Gangliosidosis	F	c.1480-2A>G	10	25	2	3
			c.952A>G (p.Asn318Asp)
J	Infantile GM1 Gangliosidosis	F	Unknown	13	35	3	3
			Unknown
K	Infantile GM1 Gangliosidosis	F	c.377T>C	13	13	1	1
			Partial deletion of HEXA gene, extent of deletion undetermined
L	Late-Infantile GM1 Gangliosidosis	M	R201C	29	53	7	6
			K578R
M	Juvenile GM1 Gangliosidosis	F	c.464T>G	68	68	1	0
			c.464T>G
N	MPS-Is	M	c.1205A>G	42	68	1	2
			c.1139A>G
O	MPS-Is	M	p.Q70X	45	55	2	2
			p.L18P
P	MPS-II	M	Unknown	47	47	1	1
			Unknown
Q	MPS-IIIa	M	p.S298P	132	146	2	2
			Unknown
R	MPS-IIIa	M	c.734G>A	133	133	1	1
			c.1063G>A
S	MPS-IIIa	M	p.S298P	72	85	2	2
			Unknown
T	MPS-IIIa	F	c.1979C>G	66	66	1	1
			c.364G>A
U	MPS-IIIa	F	p.S66W	44	44	1	1
			p.C481X
V	MPS-VI	M	Unknown	206	206	0	1
			Unknown