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PROPERTIES OF FIVE ACID HYDROLASES IN HUMAN SKIN FIBROBLAST CULTURES Possible Use in the Diagnosis of Inborn Lysosomal Diseases
Author(s) -
HULTBERG B.,
SJBBLAD S.,
BCKERMAN P. A.
Publication year - 1973
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1973.tb08140.x
Subject(s) - isoelectric focusing , medicine , enzyme , biochemistry , isoelectric point , fibroblast , glycoside hydrolase , biology , in vitro
Summary Five acid hydrolases, β‐galactosidase, β‐gluco‐sidase, a‐mannosidase, N‐acetyl‐β‐glucosamini‐dase, and β‐glucuronidase, were studied in human skin fibroblast cultures. The pH‐de‐pendency and kinetic properties of the enzymes as well as results of gel filtration and isoelectric focusing indicate that these enzymes are the same in fibroblasts as in liver. Techniques were defined with the aim of finding methods suitable for the diagnosis of inborn lysosomal diseases. It is stressed that great caution must be executed in the interpretation of results, since isolated enzyme deficiencies may appear in early, but not in later subcultures. Also, there were great variations in the activity levels between different subcultures.