A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

BMC Veterinary Research

Table 2 Serum lysosomal enzyme activities in ML II affected kittens and clinical healthy littermates with normal ranges

Enzyme	Animal ID # and clinical status							Normal control^a Median (IQR), n = 10
	Affected				Healthy			Normal control^a Median (IQR), n = 10
	7160	7162	7163	Median (IQR)	7161	7164	Median (IQR)
	Activity^b
α-L-iduronidase	95.5	95.0	65.7	95.0 (29.8)^c	14.8	13.7	14.3 (1.1)	14.0 (4.3)
arylsulfatase B	209.8	170.4	185.4	185.4 (39.4)^c	10.9	9.9	10.4 (1.0)	9.8 (5.8)
β-glucuronidase	6126	7196	6061	6126 (1185)^c	235.4	263.1	249.3 (27.7)	255.4 (29.3)
α-D-mannosidase	61,921	62,017	50,822	61,921 (11195)^c	7079	6217	6648 (862)	6114 (3635)
α-D-fucosidase	2543	3015	2459	2543 (556)^c	140.6	166.8	153.7 (26.2)	156.5 (44.2)
N-acetyl-β-D-glucosaminidase	9294	8380	6923	8380 (2371)^c	1155	1015	1085 (140)	1138 (200)

^aReference values were based on 10 clinically healthy kittens, and presented as median with interquartile range (IQR)
^bEnzyme activities were presented as nMol 4-MU/mL serum/hour
^cp < 0.01 when compared to unrelated control cats and also to the combined group of unrelated control cats and clinically healthy littermates

ISSN: 1746-6148