Glucocerebrosides

Gaucher Glucocerebrosidase Glucocerebroside Type 1 Adult Hepatosplenomegaly Erosion of bones, fractures Pancytopenia or thrombocytopenia Characteristic macrophages (crumpled paper inclusions)... 

Answer D. Glucocerebrosides would accumulate in the cells since the missing enzyme is glucosylcerebrosidase. 

The "crumpled tissue paper" appearance of the cytoplasm of Gaucher cells is caused by enlarged, elongated lysosomes filled with glucocerebroside. 

Figure 1. TLC of myelin lipids after treatment with perbenzoylation-desulfa-tion. Line S, standard line M, derivatized myelin lipids. Spots 1 through 6 are ben-zoylated-desulfated derivatives of (I) glucocerebroside, (2) nonhydroxycere-broside, (3) monogalactosyl diglyceride, (4) hydroxycerebroside, (5) nonhydroxy-sulfatide, and (6) hydroxysulfatide, respectively. See text for details of TLC conditions.

Inokuchi,J., and Radin, N. S. (1987). Preparation of the active isomer of l-phenyl-2-decanoylamino-3-morpholino-1-propanol, inhibitor of murine glucocerebroside synthetase. J. Lipid Res. 28, 565-571. 

Figure 7 Effect of weekly intravenous infusions of mannofie-tenniiiBl ttlucocerehrom-dase on plasma glucocerebroside levels. Enzyme was administered described in Figure 5. Shaded aicas represent the mean values observed during the entire low-dose period and after 2 yoois of uninterrupted high-dose treatment C 1 SD). Normal range 9-13 jinxil/L.

Since uniform reductions in hepatic glucocerebroside content were observed in the preceding trial at a dose of 60 USkg body weight, we designed a chronic... 

Figure 9.18 Structures of sphinogosine (A), a sphingomyelin (B), a glucocerebroside (C), and a ganglioside (D). In the last, stearic acid is attached to the -NH2 residue of sphingosine. The structure shown represents a GMj ganglioside. (Parts A, B, C reproduced by permission from Diem K, Lentner C. Scientific Tables. Basel Ciba-Geigy, 1971, p. 376 part D reproduced with permission from Fishman PH, Brady RO. Biosynthesis and function of gangliosides. Science 194 906-915, 1976.

Although the (3-glucosidase assay can be performed on any tissue, the tissues of choice are peripheral blood leukocytes or cultured fibroblasts grown from a punch biopsy of the skin. Antenatal diagnosis can be made using extracts of cultured amniotic cells obtained from amniocentesis. There are several different (3-glucoside substrates that can be used in the assay the natural substrate glucocerebroside or structurally similar, artificial substrates. 

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