title: Biochemical heterogeneity in I-cell disease. Sucrose-loading test classifies two distinct subtypes.
abstract: Since we observed the normalization of intracellular hydrolases in some cell lines of I-cell disease (ICD) by 88 mmol/l sucrose, we have hypothesized that the degree of responses of the hydrolases might be due to biochemical heterogeneity among ICD. In this study the changes of intracellular lysosomal enzymes as well as Golgi enzymes including N-acetylglucosaminyl phosphotransferase (GlcNAcPTase) and extracellular hexosaminidase (HEX) were investigated using normal and ICD fibroblasts. Sucrose loading induced the activities of intracellular HEX and GlcNAcPTase simultaneously only in responding-type ICD cells, and not in nonresponding-type ICD cells, indicating that two biochemical heterogeneous groups exist in ICD.
authors.affiliation: Department of Pediatrics, Osaka University Hospital, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Okada
authors.forename: K
authors.initials: K
authors.lastname: Inui
authors.forename: M
authors.initials: M
authors.lastname: Furukawa
authors.forename: M
authors.initials: M
authors.lastname: Midorikawa
authors.forename: J
authors.initials: J
authors.lastname: Nishimoto
authors.forename: H
authors.initials: H
authors.lastname: Yabuuchi
authors.forename: T
authors.initials: T
authors.lastname: Kato
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: S
authors.initials: S
authors.lastname: Gasa
authors.forename: A
authors.initials: A
authors.lastname: Makita
mesh_terms: D002478:Cells, Cultured; D003208:Concanavalin A / Q000494:pharmacology; D004705:Endocytosis; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D009081:Mucolipidoses / Q000145:classification* / Q000201:enzymology; D010770:Phosphotransferases / Q000378:metabolism*; D037121:Plant Lectins; D010947:Plants, Toxic; D012278:Ricinus / Q000378:metabolism; D012497:Sandhoff Disease / Q000378:metabolism; D013395:Sucrose; D017855:Transferases (Other Substituted Phosphate Groups); D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism*
chemical_list: D037121:Plant Lectins; D003208:Concanavalin A; D013395:Sucrose; D010770:Phosphotransferases; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase; D001619:beta-N-Acetylhexosaminidases