Ceramide trihexoside , accumulation

In addition to the cerebrosides, which contain only one carbohydrate residue, there are other glycosphingolipids in mammalian cells that contain more than one sugar component. These oligosaccharide derivatives are called globosides. For example, lactosyl ceramide (1-O-lactosyl-A acylsphingosine) is a constituent of the erythrocyte membrane. Ceramide trihexoside accumulates in the kidneys of patients with Fabry s disease, due to the lack of a lysosomal a-galactosidase A activity. 

Ceramide trihexosidase (a-galactosidase) (EC 3.2.1.22). Sphingolipidosis due to accumulation of ceramide trihexoside. Skin lesions (purple macules and papules). Corneal opacities, cataracts, retinal edema. Cardiovascular, neurological and gastrointestinal disorders. Characteristic severe burning pains in extremities. X-chromosome-linked. 

The ceramide trihexoside (6) accumulating in Fabry s disease has been synthesized by a conventional Koenigs-Knorr procedure. A novel ganglioside, disialosylparagloboside (7), has been isolated from human kidneys and its structure determined. ... 

Fig. 10. Hypothetical scheme of degradation of glycolipids. A block at step II would lead to accumulation of ceramide-trihexoside and might represent the lesion in ACD. Blockage of step III is a possibility in the case of Jervis et al. (1962), and of step IV in Gaucher s disease...

Ceramide trihexoside has been demonstrated to accumulate in ti sues of persons with Fabrey s disease (Sweeley and Klionsky, 1963). 

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