A study on enzyme activities of some sphingolipidoses.

Abstract

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.

• Authors: H A Ozkara, M C Arikan, M Topçu, S Emre, Y Renda
• Journal: The Turkish journal of pediatrics (Turk J Pediatr) 1994 Jul-Sep Vol. 36 Issue 3 Pg. 215-21 ISSN: 0041-4301 [Print] Turkey
• PMID: 7974812 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cerebrosides
• Cerebroside-Sulfatase
• alpha-Galactosidase
• beta-Galactosidase
• Hexosaminidase A
• beta-N-Acetylhexosaminidases

Topics

• Amniotic Fluid (enzymology)
• Case-Control Studies
• Cells, Cultured
• Cerebroside-Sulfatase (metabolism)
• Cerebrosides (metabolism)
• Child, Preschool
• Female
• Fetal Diseases (diagnosis, enzymology)
• Fibroblasts (enzymology, pathology)
• Hexosaminidase A
• Humans
• Infant
• Infant, Newborn
• Male
• Postnatal Care
• Pregnancy
• Prenatal Diagnosis
• Skin (enzymology, pathology)
• Sphingolipidoses (diagnosis, enzymology)
• alpha-Galactosidase (metabolism)
• beta-Galactosidase (metabolism)
• beta-N-Acetylhexosaminidases (metabolism)