Pathogenetic Aspects

The pathogenesis of NPD, 40 years after the detection of the disease, is still largely unknown. Some possible causes of the condition are discussed below. 

If one assumes that the abnormality in NPD is basically one of sphingomyelin metabolism, two major points derserve attention, namely whether 

Numerous chemical analyses in NPD have failed to produce evidence of an abnormal sphingomyelin molecule. As in the normal sphingosine moiety there is a double bond between carbon atoms 4 and 5. The amino group (Cg) and hydroxyl group (C3) are in the erythro-configuration. 

Sribney and Kennedy (1958) observed that for the phosphorylcholine-ceramide transferase reaction only threosphingosine could serve as substrate. They 

Dihydrosphingosine and homologues with longer chain lengths are apparently present in small amounts in NPD, as is the case in normals. Whether persistence of a fetal sphingomyelin fatty acid pattern may be the cause or the result of storage, remains to be shown. There is no evidence for the occurrence in NPD of abnormal fatty acids in sphingomyelins. 

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