Sphingolipids storage disorders

Table 4.4.1 Enzyme and protein deficiencies and the associated sphingolipid storage disorders. D Dried blood spot, F fibroblasts, L leukocytes,... 

Wenger, D. A., and Inui, K., Studies on the sphingolipid activator protein for the enzymatic hydrolyses of CMj ganglioside and sulfatide. In Molecular Basis of Lysosomal Storage Disorders (J. A. Barranger and R. O. Brady, eds.), pp. 61-78. Academic Press, Orlando, 1984. 

In the last step of sphingolipid degradation, ceramide is split into sphingosin and a long-chain fatty acid by the enzyme ceramidase. The genetic defect of this enzyme leads to Farber s disease, a storage disorder with onset in early childhood. In most cases, death occurs in the early years of life, but later-onset types with variable involvement of the central nervous system have also been observed. 

Stem, J., Novikoff, A. B., and Terry, R. D., 1972, The induction of sulfatide ganglioside and cerebroside storage in organized nervous system cultures, in Sphingolipids, Sphingolipidoses and Allied Disorders (B. W. Volk and S. Aronson, eds.), pp. 651-660, Plenum Press, New York. 

---