Glycogenosome accumulation in the arrector pili muscle in Pompe disease

Table 1 Clinical characteristics and laboratory findings of 6 adult Pompe patients

	P1	P2^a	P3^a	P4^b	P5^b	P6
Sex	Female	Female	Female	Male	Female	Male
Age (year)	22	53	50	47	56	63
Durations of symptoms in years	12	27	24	10	16	11
Duration of ERT in months	24	0	0	0 (19)	0 (20)	12
GAA genotype	c.-45 T > G*; IVS9-1G > C	c.-45 T > G; IVS16 + 102_IVS17 + 31	c.-45 T > G; IVS16 + 102_IVS17 + 31	c.307 T > G; c.1478C > T	c.307 T > G; c.1478C > T	c.-45 T > G: c.925G > A
6 minute walk test (m)	510	130	430	450	420	120
Walking aids	No	Yes	No	No	No	Yes
Walton Gardner Medwin Scale^c	3	6	2	4	3	6
Slow Vital capacity (%)	60	56	96	91	73	44
α-glucosidase activity
At pH 3.8	0.59	0.36	1.06	1.17	0.72	1.58
With inhibition (dry blood spot test**)	0.14	0.17	0.39	0.32	0.05	0.18

^aSiblings.
^bSiblings.
^cThe Walton-Gardner-Medwin Scale (WGMS) is a 10-item scale to asses the degree of walking disability (0 normal walking, 7 wheelchair bound).
In brackets is the duration of ERT in months at the time of the second biopsy.
ERT enzyme replacement therapy, GAA acid α-glucosidase,
*c.-45 T > G stands for c.-32-13 T > G.
**Normal range of α-glucosidase acitivity at pH 3.8: 1.5 – 10.0 nmol/spot*21 hours; with inhibition: 0.9-7.2 nmol/spot*21 hours.

ISSN: 1750-1172