Cerebroside lipidosis

Fredrickson, D.S. Cerebroside lipidosis Gaucher s disease. In The metabolic basis of inherited disease (Stanbury, J.B., Wyngaarden, J.B., and Fredrickson, D.S., eds.), 2nd ed., p. 565-585. New York McGraw-Hill Book Company 1966... 

Cerebrosides and sphingomyelin are believed to accumulate in the globoid bodies. In fact, the injection of cerebrosides into rats has led to the appearance in the white matter of cells that resemble globoid cells. The biochemical defect in Krabbe s disease is still unknown, but two clues are available. There are no defects in sphingomyelin breakdown, there is a shift in the ratio of cerebrosides to sulfatides (from 3 to 1 in the normal individuals to 12 to 1 in those with leukodystrophy. These observations have led to the suggestion [127-130] that the lipidosis results from a deficiency of a sulfate-transferring enzyme (see Fig. 3-43). 

A lipidosis, characterized by the accumulation of sulphuric acid esters of cerebrosides in nervous tissue, due to a deficiency of the degradative enzyme, cerebroside sulphatase. Progressive paralysis and hypotonia are among the clinical findings resulting in death after a few years. 

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