Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities.
Esterase and deamidase activities at pH 7.0 and carboxypeptidase activity at pH 5.7 were markedly low or deficient in seven galactosialidosis fibroblast strains with deficient activity of "protective protein" for lysosomal beta-galactosidase and neuraminidase. No simultaneous deficiency of these three enzyme activities was observed in other lysosomal disease fibroblasts examined in this study. This result strongly suggests that "protective protein" is identical with a multifunctional protein with esterase/deamidase/carboxypeptidase activities and its mutation in galactosialidosis results in deficiency of these three enzyme activities.
Kase
R
R
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Itoh
K
K
Takiyama
N
N
Oshima
A
A
Sakuraba
H
H
Suzuki
Y
Y
D000293:Adolescent; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology / Q000503:physiopathology*; D002268:Carboxypeptidases / Q000172:deficiency*; D002478:Cells, Cultured; D004950:Esterases / Q000172:deficiency*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009439:Neuraminidase / Q000172:deficiency*
D004950:Esterases; D009439:Neuraminidase; D002268:Carboxypeptidases