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LYSOSOMAL ENZYMES IN JUVENILE AMAUROTIC IDIOCY
Author(s) -
Öckerman P. A.
Publication year - 1968
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.1651-2227.1968.tb06976.x
Subject(s) - acid phosphatase , juvenile , enzyme , medicine , pathogenesis , mannosidase , glucuronidase , lysosomal storage disease , pathology , disease , endocrinology , biochemistry , biology , genetics
Summary The activity of several acid hydrolases was measured in tissues and plasma from patients with juvenile amaurotic idiocy (JAI). Increased activities were found for β‐galactosidase, β‐glucuronidase, β‐acetylglucosaminidase, acid phosphatase and α‐fucosidase. No significant changes were found for α‐mannosidase, except a slight decrease in plasma. The results show similarities to the findings in gargoylism and a new disease, resembling Hurler's syndrome. These two diseases are supposed to be caused by primary lysosomal enzyme defects. It is suggested that the role of the lysosomes in the pathogenesis of JAI should be studied in more detail.