Table 1.

GAA activity in Pompe patients measured in DBS and leukocytes.

Patient	Dried blood spot (DBS)		LEUKOCYTES		Clinical diagnosis
	AGLU-4MUG + 8ACB (pmol/17 h/punch)	BGAL (pmol/17 h/punch)	AGLU-GN+3ACB (nmol/h/mg)	BGAL (nmol/h/mg)
15	30.8	4730	1.6	152	Classic infantile Pompe disease
16	48.8	2480	1.0	131	Childhood onset Pompe disease
17	13.8	2860	–0.1	162	Classic infantile Pompe disease
18	25.2	2520	0.8	129	Classic infantile Pompe disease
19	17.4	1660	5.0	147	Classic infantile Pompe disease
20	11.4	1380	1.2	192	Classic infantile Pompe disease
21	10.6	1780	–1.1	174	Classic infantile Pompe disease
22	27.8	3100	–0.2	192	Classic infantile Pompe disease
23	14.6	2040	–1.6	167	Classic infantile Pompe disease
24	12.9	2950	0.3	207	Classic infantile Pompe disease
25	25.4	3920	0.1	172	Classic infantile Pompe disease
26	28.6	3710	2.8	104	Childhood onset Pompe disease
27	25	4990	0.9	222	Unknown
28	8.51	3060	1.2	161	Classic infantile Pompe disease
29	41.5	4700	–0.4	181	Classic infantile Pompe disease
30	59.4	3620	–2.0	225	Classic infantile Pompe disease
31	58.6	6050	–1.1	169	Classic infantile Pompe disease
32*	85.3	4710	–0.7	139	Classic infantile Pompe disease
	68	5230			Classic infantile Pompe disease
	48.6	3250			Classic infantile Pompe disease
Normal range	94–448	476–4680	>40–250	50–326
Patient range	11–56	88	Classic infantile: 0–3.5	0.6–6.3
			Childhood/Adult: 0–10

Cases 30–32 were borderline inconclusive using the DBS, but were positively confirmed with leukocytes as sample source. *Patient 32 showed variable measurements of GAA activity and BGAL in DBS (technical replicates were performed). Patient 16 and 26 were diagnosed with childhood Pompe disease, and individual 27 was classified as Unknown/Deficient due lack of clinical information.

Italic: values within the patient range.