Table 1.

Patient characteristics

Patient	Gender	Initial diagnosis (years)	Age at correct diagnosis (years)	Age at last follow-up (years)	Mutations of the GNPTAB gene		Mutations of the GNPTG gene		Multiple lysosomal enzyme activities
					Allele 1	Allele 2	Allele 1	Allele 2	Plasma	Fibroblasts
1	M	MPS IV 8	11	23	NM_024312.4:c.1178A>G p.(His393Arg)	NM_024312.4:c.3503_3504del p.(Leu1168fs)[1]			Elevated	N.A.*
2	M		7	27	NM_024312.4:c.196C>T p.(Gln66*)	NM_024312.4:c.366-1G>C p.?[2]			N.A.	Reduced
3	F	MPS II 4	7	48			NM_032520.4:c.411 + 11_411 + 35del p.?	NM_032520.4:c.411 + 11_411 + 35del p.?	Elevated	Reduced
4	F		9	18	NM_024312.4:c.1090C>T p.(Arg364*)	NM_024312.4:c.2715 + 2T>G p.?			Elevated	N.A.
5	M		8	30			NM_032520.4:c.122_138del p.(Pro41fs)	NM_032520.4:c.331T>C p.(Trp111Arg)	Elevated	N.A.
6	M	MPS IV	46	48			NM_032520.4:c.318-1G>C p.?	NM_032520.4:c.318-1G>C p.?	N.A.	Reduced
7	F	MSP IVB 30	64	68			NM_032520.4:c.318-1G>C p.?	NM_032520.4:c.318-1G>C p.?	Elevated	N.A.
8	F		7	28	N.A.	N.A.	N.A.	N.A.	N.A.	Reduced
9^	M		22	28	N.A.	N.A.	N.A.	N.A.	Elevated	N.A.
10#	M		8	39	N.A.	N.A.	N.A.	N.A.	Elevated	N.A.
11^	F		17	32	N.A.	N.A.	N.A.	N.A.	Elevated	N.A.
12#	F		Unknown	35	N.A.	N.A.	N.A.	N.A.	Elevated	N.A.
13	F		3.5	27	N.A.	N.A.	N.A.	N.A.	Elevated	Reduced

*: GlcNAc-1-PT enzyme deficient in fibroblasts, N.A.: not available

#^; siblings

1. Kudo et al. (2005)

2. Raas-Rothschild et al. 2004