Ceramides trihexosyl

Morbus Fabry. Brady (1967) and Brady et al. (1967) attributed the accumulation of Gala(l —> 4)-Gal/3(l - 4)-Glc-Ger in patients with Fabry s disease to the absence of a lyosomal galactose hydrolase, specific for the terminal galactose of the trihexosyl ceramide. 

A corresponding enzyme is also absent from the blood plasma of patients with this disease (Mapes et al., 1970). Schibanoff et al. (1969) studied the distribution of the glycosphingolipids in Fabry s disease patients they found the trihexosyl ceramide to be the predominant neutral glycolipid in all tissues, including liver, spleen, kidney, lymph node, pancreas, prostate gland, heart muscle, thenar muscle, gastrointestinal smooth muscle, cerebral cortex, anterior thalamus, brain stem, peripheral autonomic ganglion, and renal artery. 

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