title: [Lysosomal enzyme activity of cultured fetal cells in Chinese and its clinical application].
abstract: Lysosomal storage diseases (LSD) are caused by deficient activity of specific lysosomal enzymes. Early diagnosis and selective termination is still the trend of therapy. The purpose of this study was to establish an assay system and investigate the reference range of lysosomal enzyme activity of cultured fetal cells in the Chinese population. Seventy amniotic fluid and 9 chorionic villi samples were collected and cultured in this study. Enzyme activity assay was done by synthesized 4-Mu-binded substrates. The activity was expressed as nmol/mg protein/hour. In cultured amniotic cells, the results showed 14-138 of alpha-glucosidase, 8-133 of alpha-galactosidase, 32-470 of alpha-mannosidase, 101-1121 of alpha-fucosidase, 106-1321 of beta-galactosidase, 15-268 of beta-glucosidase, 11-279 of beta-glucuronidase, 101-1193 of Hexosaminidase A, and 886-6204 of N-acetyl-alpha-glucosaminidase. In cultured chorionic villi samples, it showed 22-335 of alpha-glucosidase, 31-230 of alpha-galactosidase, 47-250 of alpha-mannosidase, 35-218 of alpha-fucosidase, 49-934 of beta-galactosidase, 34-329, of beta-glucosidase, 57-379 of beta-glucuronidase, and 328-3412 of Hexosaminidase A. The enzyme activity was not correlated with the gestation age when sample was obtained. Furthermore, there was no statistical significance among the range of amniotic cells, chorionic villi samples, skin fibroblasts and peripheral leukocytes for each enzyme studied. It is suggested that the synthesis of lysosomal enzymes has been mature since the early fetal state, and the samples obtained as early as 8 weeks of gestation age can be used for early diagnosis of lysosomal storage diseases.
authors.affiliation: Department of Physiology, Kaohsiung Medical College, Taiwan, Republic of China.
authors.forename: R C
authors.initials: RC
authors.lastname: Yang
authors.forename: S L
authors.initials: SL
authors.lastname: Yang
authors.forename: S W
authors.initials: SW
authors.lastname: Chen
authors.forename: S H
authors.initials: SH
authors.lastname: Jing
authors.forename: L J
authors.initials: LJ
authors.lastname: Sheu
authors.forename: S C
authors.initials: SC
authors.lastname: Chang
authors.forename: Y H
authors.initials: YH
authors.lastname: Huang
authors.forename: D M
authors.initials: DM
authors.lastname: Lee
authors.forename: M C
authors.initials: MC
authors.lastname: Chao
mesh_terms: D002478:Cells, Cultured; D002681:China; D005260:Female; D005333:Fetus / Q000201:enzymology*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000208:ethnology; D008247:Lysosomes / Q000201:enzymology*; D011247:Pregnancy; D011296:Prenatal Diagnosis