Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.

Abstract

Biochemical investigations were performed on autopsy tissues obtained from an 11 yr old girl who died with the juvenile, subacute neuropathic form of Gaucher disease. In addition to the expected deficiency of glucocerebrosidase [EC 3.2.1.45] activity, extracts of both liver and kidney from this individual displayed a profound (.gtoreq. 90%) deficiency of soluble .beta.-glucosidase [EC 3.2.1.21], .beta.-xylosidase and .beta.-galactosidase activities. Fibroblasts obtained from this individual also contained markedly reduced levels of .beta.-xylosidase activity but normal levels of .beta.-D-fucosidase and .beta.-galactosidase activity. Because the soluble .beta.-glucosidase, .beta.-xylosidase and a portion of the .beta.-galactosidase activities from control human liver all cochromatographed on a gel filtration column of Sephadex G-200, it is suggested that these activities all reside in a single enzyme, analogous to the situation described in a number of nonhuman, mammalian tissues. This demonstration of multiple glycosidase deficiencies in addition to the deficiency of glucocerebrosidase in a case of subacute neuropathic Gaucher disease suggests that other biochemical aberrations, in addition to a deficiency of glucocerebrosidase, might contribute to pathology in some cases of Gaucher disease.