Table 3.

Diagnosis of each MPS according to the methodology and sample types.

MPS Type *	Deficient Enzyme	Methods	Samples
MPS I	α-L-iduronidase	Spectrofluorometry, MS/MS, DMF-F	L, F, DBS, CV, A
MPS II	Iduronate-2-sulfatase	Spectrofluorometry, MS/MS, DMF-F	L, F, DBS, CV, A
MPS IIIA	Heparin sulfamidase	Spectrofluorometry, MS/MS	L, F, CV, A, DBS
MPS IIIB	N-acetylglucosaminidase	Spectrofluorometry, MS/MS	L, F, DBS, CV, A
MPS IIIC	N-acetyl-transferase	Spectrofluorometry	L, F, CV, A*
MPS IIID	N-acetylglucosamine-6-sulfatase	Spectrofluorometry	L, F, CV, A*
MPS IVA	N-acetylgalactosamine-6-sulfatase	Spectrofluorometry, MS/MS	L, F, DBS, CV, A
MPS IVB	ß-galactosidase	Spectrofluorometry	L, F, DBS, CV, A
MPS VI	Arylsulfatase B	Spectrophotometry, MS/MS	L, F, DBS, CV, A
MPS VII	ß-glucuronidase	Spectrofluorometry, MS/MS	L, F, DBS, CV, A

L: leukocytes, F: fibroblasts, CV: chorionic villi, A: amniocytes, MS/MS: tandem mass spectrometry, DMF-F: digital microfluidics methods use DBS as sample. No published results for the analysis of MPS IIIC and D in dried blood spots (DBS) by MS/MS until this moment. * MPS IX has a peculiar presentation and is not usually searched in the diagnostic work-ups.