Trihexosidase, ceramide

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. 

Mapes, C.A., Suelter, C.H., Sweeley, C.C. Isolation and characterization of ceramide trihexosidases (form A) from human plasma. J. biol. Chem. 248, 2471-2479 (1973)... 

The a- and j9-D-glucosidase activities in human epidermoid carcinoma KB cells have been investigated. The levels of D-glucosylceramidase (ceramide D-glucosidase) and ceramide trihexosidase were also investigated at various stages of the cell s cycle, and two forms of D-glucosylceramidase (pH optima 4.0 and 6.0) were detected. 

Mapes, C. A., and Sweeley, C. C., 1973, Interconversion of the A and B forms of ceramide trihexosidase from human plasma. Arch. Biochem. Biophys. 158 297. 

T rihexosyl ceramide Fabry s disease Ceramide trihexosidase Skin rash pains in the extremities, pyrexia progressive renal failure... 

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