Diagnostic and treatment strategies in mucopolysaccharidosis VI

Figures & data

Table 1 Frequency of MPS (all types) and MPS VI reported in the literature

Country/Region	Frequency of MPS (all types)a	Frequency of MPS VIa	Reference
The Netherlands	4.5	0.15	Poorthuis et al^Citation6
Australia	4.4	0.4	Meikle et al^Citation7
Western Australia	3.4	0.31	Nelson et al^Citation8
Northern Portugal	4.8	0.42	Pinto et al^Citation9
Germany	3.53	0.23	Baehner et al^Citation10
Sweden	1.75	0.07	Malm et al^Citation11
Norway	3.08	0.07	Malm et al^Citation11
Denmark	1.77	0.05	Malm et al^Citation11
Tunisia	2.29	0.35	Ben Turkia et al^Citation12
Taiwan	2.04	0.14	Lin et al^Citation13
Czech Republic	3.72	0.05	Poupetová et al^Citation14
Saudi Arabia	NA	8.0	Moammar et al^Citation15
Estonia	4.05	0.27	Krabbi et al^Citation16
Brazil (Monte Santo, a small city in the Northeast)	NA	25.0	Costa-Motta et al^Citation4
Poland	1.81	0.0132	Jurecka et al^Citation17

Note:

a Cases per 100,000 live births.

Abbreviations: MPS VI, mucopolysaccharidosis VI; NA, not available.

Figure 1 Male patient (14 years old) with the rapidly advancing form of MPS VI.

Abbreviation: MPS VI, mucopolysaccharidosis VI.

Figure 2 Female patient (11 years old) with the slowly advancing form of MPS VI.

Abbreviation: MPS VI, mucopolysaccharidosis VI.

Figure 3 Electrophoresis of urinary GAGs.

Notes: The pattern observed in MPS VI, with presence of marked amounts of DS is indicated. The patterns observed in other MPS types are also indicated (with increased amounts of DS + HS, HS only or KS only).
Abbreviations: MPS, mucopolysaccharidosis; GAGs, glycosaminoglycans; DS, dermatan sulfate; HS, heparan sulfate; KS, keratan sulfate.

Table 2 Recurrent mutations observed in specific populations worldwide

Mutation	Nucleotide	Exon/region	Reference
p.L72R	g.215T>G	I	Petry et al^Citation90
p.R152W	g.454C>T	II	Voskoboeva et al^Citation91
g.427delG	g.427delG	II	Karageorgos et al^Citation92
p.G144R	g.430G>A	II	Isbrandt et al^Citation93
p.H178L	g.533A>T	III	Karageorgos et al^Citation92
p.Y210C	g.629A>G	III	Litjens et al^Citation94
p.R315Q	g.944G>A	V	Villani et al^Citation95
IVS5-1g>c	g.1143-1G>C	Intron V	Karageorgos et al^Citation92
IVS5-8t>g	g.1143-8T>G	Intron V	Petry et al^Citation90
p.H393P	g.1178A>C	VII	Litjens et al^Citation94
p.F399L	g.1197C>G	VII	Yang et al^Citation96
p.P531R	g.1592C>G	VIII	Villani et al^Citation95
g.1533del23	g.1533del23	VIII	Petry et al^Citation90

Figure 4 Product-limit survival estimates of MPS VI patients who received ERT and who were treatment naïve.

Notes: Product-limit survival estimates with number of subjects at risk and 95% confidence intervals. Kaplan–Maier survival curves of ERT (n=103; blue solid line) and naïve (n=14; red dashed line) patient groups. The 95% confidence intervals are indicated by blue (ERT) or red (naïve) shaded boxes. The calculated P-values were: Log rank P=0.0006, Wilcoxon P=0.0002. Reproduced from Giugliani R, Lampe C, Guffon N, et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) – 10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A. 2014;164A(8):1953–1964, with permission from Johny Wiley and Sons. © 2014 Wiley Periodicals, Inc.⁸⁸
Abbreviations: MPS VI, mucopolysaccharidosis VI; ERT, enzyme replacement therapy; yrs, years.

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