Table 5.

Summary of the SMAS scores for all patients, mutation type, and therapy.

Patient Number	MPS Type	Sex	Age in Years	SMAS	Score Percentage	Associated Abnormality	Therapy	Mutation
1	I	M	39.1	20	51.3		HSCT	p.(Trp402Ter), p.(Leu218Pro)
2	I	M	31.3	15	33.3		HSCT	p.(Leu490Pro), p.(Leu490Pro)
3	I	M	25.9	23	51.1		HSCT	p.(Trp402Ter), p.(Trp402Ter)
4	I	M	25.7	10	22.2		HSCT	p.(Gln70Ter), p.(Gln70Ter)
5	I	M	32.2	24	53.3		HSCT	p.(Trp402Ter), p.(Ser633Leu)
6	I	M	26.7	31	68.9	OSA	ERT	hom L490P, exon 10 IDUA gene
7	I	F	23.0	10	22.2		ERT	N/A
8	I	F	43.0	29	64.4	OSA	ERT	N/A
9	I	F	24.0	20	48.7		ERT	N/A
10	II	M	30.1	40	88.9	TRACH	ERT	c.1152delT, exon 8 IDS gene
11	II	M	31.7	36	80	OSA	ERT	N/A
12	II	M	29.1	35	77.8	OSA	ERT	N/A
13	II	M	20.7	32	82.1	OSA	ERT	c.1528insT
14	II	M	33.0	40	88.9	TRACH	ERT STOPPED	N/A
15	II	M	32.9	34	75.6	OSA	ERT	N/A
16	II	M	25.2	32	82.1	OSA	ERT	N/A
17	II	M	26.3	11	24.4		ERT	T14gT, exon4 IDS gene
18	II	M	23.7	21	46.7		ERT	N/A
19	II	M	20.9	31	79.5	OSA	ERT	N/A
20	II	M	26.9	29	64.4	OSA	ERT	missense mutation in N63D, exon 2, IDS gene
21	II	M	23.3	14	31.1		ERT	N/A
22	III	F	19.6	9	30		none	N/A
23	III	F	20.3	2	6.7		none	hom c.234+1G>T, HGSNAT gene
24	IV	F	23.0	32	82.1	OSA	none	N/A
25	IV	F	21.1	28	71.7	OSA	ERT?	N/A
26	IV	F	41.1	38	84.4	OSA	ERT STOPPED	hom c.871G>A p.(Ala291Thr) GALNS gene
27	IV	M	33.5	27	60	OSA	none	N/A
28	IV	M	19.3	26	57.8	OSA	ERT	N/A
29	VI	F	27.3	30	66.7	OSA	ERT	T442R/245delT
30	VI	M	38.1	41	91.1	TRACH	ERT paused	N/A
31	VII	M	31.0	16	41.1		none	c.526C>T p.(Leu176Phe), c.1820G>C p.(Gly607Ala)

MPS—mucopolysacharridosis, M—male, F—female, HSCT—haematopoetic stem cell transplantation, ERT—enzyme replacement therapy, SMAS—Salford Metabolic Airway Score, TRACH—tracheostomy, OSA—obstructive sleep apnoea.