XXXX : comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues.

@entity1 @entity625 @entity174 @entity15675 @entity2975 @entity1120 @entity158
Acid phosphatase activity was determined in serum, cultured fibroblasts, and peripheral blood lymphocytes of six splenectomized adult @entity1 with non-neuropathic @entity1120 in two Canadian families. Elevated levels of serum acid phosphatase activity (520-711% of normal) were found in four @entity1 who also developed orthopedic complications associated with @entity1120 , including intermittent @entity158 , @entity625 , collapse of femoral head, and pathological @entity174 . Serum acid phosphatase activity in two @entity1 who do not have bone involvement were found to be within the normal range. Contrary to the serum enzyme, acid phosphatase activity in lymphocytes and cultured fibroblasts of all of the @entity1 was within the normal range. Deficient glucocerebrosidase (7.5-15.5% of normal) and @entity15675 (13.8-27.8% of normal) activities were noted in all probands. Similarly, normal levels of fibroblast and lymphocyte acid phosphatase activity were found in Gaucher heterozygotes whose glucocerebrosidase activity was about 50% of normal. Acid @entity2975 gel electrophoresis and acid phosphatase activity staining of the @entity1 ' sera showed that the elevated acid phosphatase is isozyme type 5 osteoclastic origin. The apparent Michaelis constant, Km, of fibroblast glucocerebrosidase for the natural substrate was 0.6 +/- 0.1 mM for controls and 0.6 +/- 0.2 mM for the @entity1 . These data suggest that the assay of serum acid phosphatase activity for the presumptive diagnosis of @entity1120 is not completely reliable and that the elevated level of serum acid phosphatase in @entity1120 is most likely a secondary phenomenon which may be indicative of bone involvement in some @entity1 with this disorder. It also demonstrates the clinical heterogeneity of type 1 @entity1120 , even among full sibs of the same heterozygous parents.
