Table 1

PPT deficiency in infantile and variant juvenile ceroid lipofuscinosis

Palmitoyl-protein thioesterase activity (nmol/17h/mg)
FibroblastsLeucocytesLymphoblastsAmniocytesChorionic villi
INCL Finnish7–212; 10
(n=5)(n=2)
INCL non-Finnish5–224–1362018
(n=12)(n=4)(n=1)(n=1)(n=1)
vJNCL+GROD7; 9
(n=2)
INCL heterozygotes399–435; 64099–128
(n=5)(n=5)
I cell disease45
(n=1)
Controls380–85090–280260–450410–910125–520
(n=32)(n=48)(n=5)(n=12)(n=15)