A study on enzyme activities of some sphingolipidoses.
Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male. Thirteen age-matched controls were also included in the study. In one of the cases, hexosaminidase A activity was found to be 0% (43-82%), while in two other cases beta-galactosidase activity was found to be 5 nmol/h/mg protein (100-1035 nmol/h/mg protein) and arylsulfatase activity was found to be 12 nmol/h/mg protein (106-990 nmol/h/mg protein), respectively. Two more enzymes, alpha-galactosidase (11-39 nmol/h/mg protein) and cerebroside beta-galactosidase (3.7-6.9 nmol/h/mg protein), were also evaluated but were found to be in the normal ranges in these patients. Therefore, these patients were considered to have Tay-Sachs disease, GM1 gangliosidosis and metachromatic leukodystrophy, respectively. The remaining five patients were normal in respect to the five enzyme activities determined. For the prenatal diagnosis of metachromatic leukodystrophy, arylsulfatase A activity was determined in one amniotic cell culture. The activity found in this case was lower than normal (34 nmol/h/mg protein versus 387 nmol/h/mg protein found in three control amniotic cell cultures.
Department of Biochemistry, Hacettepe University Faculty of Medicine, Ankara.
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Arikan
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Renda
D000653:Amniotic Fluid / Q000201:enzymology*; D016022:Case-Control Studies; D002478:Cells, Cultured; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D002554:Cerebrosides / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology* / Q000473:pathology; D054818:Hexosaminidase A; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011181:Postnatal Care; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology* / Q000473:pathology; D013106:Sphingolipidoses / Q000175:diagnosis / Q000201:enzymology*; D000519:alpha-Galactosidase / Q000378:metabolism; D001616:beta-Galactosidase / Q000378:metabolism; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
D002554:Cerebrosides; D002553:Cerebroside-Sulfatase; D000519:alpha-Galactosidase; D001616:beta-Galactosidase; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases