Table 1.

Confirmatory investigation of cases screened positive in a program of NBS for LSDs in Brazil.

	Case 1	Case 2	Case 3	Case 4
	MPS I?	Pompe?	Gaucher?	MPS I?
Enzyme analysis	IDUA	GAA	GBA	IDUA
DBS-fluorometry	Undetectable	NP	2.8 nmol/h/mL	NP
			(2.2–17)
Plasma-fluorometry	11 nmol/h/mL	NP	NP	NP
	(6.6–34)
Leukocytes-fluorometry	11 nmol/h/mg protein	1.00 nmol/h/mg protein	5.6 nmol/h/mg protein	27 nmol/h/mg protein
	(27–171)	(1.00–7.60)	(10–45)	(27–171)
		Father: 1.9	Father: 8.1
		Mother: 2.70	Mother: 22.0
Urinary GAGs
Quantitation (DMB - colorimetry)	197 μg/mg creatinine	NP	NP	272 μg/mg creatinine
	(133–460)			(133–460)
Electrophoresis (qualitative)	Normal GAG pattern	NP	NP	Normal GAG pattern
Gene analysis	IDUA	GAA	GBA	IDUA
Mutation 1	c.251G>C	c.-32-13T>G	c.1226A>G	c.1205G>A
Effect	p.(Gly84Ala)	Splice site variant	p.Asn409Ser (N370S)	p.Trp402Ter
Significance	Predicted pathogenic	Pathogenic variant	Pathogenic variant	Pathogenic variant
Mutation 2	c.246C>G	c.[1726G>A; 2065G>A]	No pathogenic variant identified	No pathogenic variant identified
Effect	p.His82Gln	p.[Gly576Ser; Glu689Lys]
Significance	Pseudodeficiency allele	Pseudodeficiency allele
		Father: c.-32-13T>G		Father: c.1205G>A
		Mother: p.[Gly576Ser; Glu689Lys]		Mother: No pathogenic variant

Numbers in parenthesis, in enzyme analysis and urinary GAGs, are reference values. IDUA: α-L iduronidase; GAA: acid α-glucosidase; GBA: acid β-glucosidase; MPS I: mucopolysaccharidosis type 1. DBS: dried blood spot; GAGs: glycosaminoglycans. NP: not performed.