Table 2.

Hexosaminidase Enzyme Activity and HEXB Gene Variant Analysis [Novel Mutations Were Marked in Bold].

	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8
Total beta hexosaminidase (μmol/L/h)	0.4	0.4	0.9	0.7	0.7	0.4	0.6	< 0.35
Beta-hexosaminidase A (μmol/L/h)	0.4	< 0.31	0.7	1.1	1.9	1.9	3.3	< 0.31
HEXB variant	c.1417 + 5G>A	c.771 + 5G>A	c.1058_1060 del p.(Gly353 del)	c.1058_1060 del p.(Gly353 del)	c.1303_1304 insCT p.(Arg435Thrfs*10)	c.611G>A p.(Gly204Glu)	c.1417 + 5G>A	c.1303_1304insCTp.(Arg435Thrfs*10)
NM_000521.3						c.325dup p.(Tyr109Leufs*6)	c.850C>T p.(Arg284*)
Zygosity	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous	Compound Heterozygous	Compound Heterozygous	Homozygous
	Class 1: Pathogenic	Class 1: Pathogenic	Class 1: Pathogenic	Class 1: Pathogenic	Class 1: Pathogenic	Class 2: likely Pathogenic	Class 1: Pathogenic	Class 1: Pathogenic