Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Figures & data

Table 1 Subtypes of Sanfilippo Syndrome (Mucopolysaccharidosis Type III; MPS III)

MPS III Subtype	Phenotype MIM No.	Affected Gene			Deficient Enzyme
		Name	Location	Locus MIM No.	Name(s)		EC No.
					UniProtKB	Alternative
IIIA	252900	SGSH	17q25.3	605,270	N-Sulpho-glucosamine sulphohydrolase	Heparan-N-sulfatase; sulfamidase; sulfamate sulfohydrolase	3.10.1.1
IIIB	252920	NAGLU	17q21.2	609,701	α-N-Acetyl-glucosaminidase	N-acetyl-α-d-glucosaminidase	3.2.1.50
IIIC	252930	HGSNAT	8p11.21-p11.1	610,453	Heparan-α-glucosaminide-N-acetyl-transferase	Acetyl CoA:α-glucosamine-N-acetyltransferase	2.3.1.78
IIID	252940	GNS	12q14.3	607,664	N-Acetyl-glucosamine-6-sulfatase	Glucosamine-6-sulfatase	3.1.6.14
IIIE	NG^a	ARSG	17q24.2	610,008	N-Glucosamine-3-O-sulfatase	Arylsulfatase G	3.1.6.15

Notes: ^aNG, not given. Phenotype MIM No. has not been given for MPS IIIE as this disease was identified to date only in the constructed mouse model, and no human patients were described yet.

Figure 1 Summary of recommended diagnostic procedures to identify Sanfilippo disease.

Figure 2 Possibilities of symptomatic treatments of patients suffering from Sanfilippo disease.

Figure 3 Summary of the psychological approach in Sanfilippo disease.