Sulfatide lipidosis

Familial demyelinative/dysmyelinative and axonal neuropathies may also be caused by impaired lysosomal lipid metabolism. Metachromatic leukodystrophy (sulfatide lipidosis) results from mutations of the arylsulfatase A gene, which encodes a lysosomal enzyme required for sulfatide turnover. Myelin is affected in both CNS and PNS, though dysfunction is restricted to the PNS in some patients, and the onset of symptoms can occur at any time between infancy and adulthood. Bone marrow transplantation can slow disease progression and improve nerve conduction velocities [57]. (See in Ch. 41.)... 

Synonyms Metachromatic leucoencephalopathy degenerative diffuse cerebral sclerosis type Scholz-Bielschowsky-Henneberg sulfatide lipidosis sulfatidosis. 

Sulfatide lipidosis in childhood. Report of a case investigated during life and at... 

Moser, H. W., and M. Lees Sulfatide lipidosis Metachromatic leukodystrophy. In The metabolism of inherited disease, p. 539. Eds J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson. 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). 

Metachromatic leucodystrophy generalized lipidosis. Determination of sulfatides in... 

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