Table 4. GNPT activity for GNPTAB c.10A>C/p.K4Q ML patients and other patient fibroblast lines.

Patient/cell line ID	GNPT activity (pmol/mg/h)	% of average control activity	Genotype	Clinical diagnosis
Patient 2	1.79	11.1	p.K4Q/c.1399delG	Intermediate
Patient 5	1.86	11.6	p.K4Q/c.1399delG	Intermediate
Patient 8	1.14	7.1	p.K4Q/c.1399delG	Intermediate
GM00113	3.14	19.5	p.K4Q/p.K4Q	‘ML III'a
ML III affected	2.13	13.2	p.S399F/c.3335+6T>G	ML III
GM01586	0.31	1.9	c.3665_3666delTC/c.3665_3666delTC	ML II
Control 1	13.8	—	—	Control
Control 2	18.5	—	—	Control
Control 3	16.0	—	—	Control

The three control activities were averaged and used to compare the relative activity in patient samples. The GNPT activity for GM01586 and Patient 2 represents the average of two independent experiments. All other activities were single determinations.

^aThe GNPT activity result for GM00113 is in good agreement with earlier data from two groups who analyzed these cells.^{16, 17} Unfortunately, no clinical information could be obtained for this patient.