STUDIES OF RED-CELL STROMAL LIPIDS IN TAY-SACHS DISEASE AND OTHER LIPIDOSES*

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Abstract
Analysis of red cell stromal phospholipids in 6 children with Tay-Sachs disease and in 9 of their apparently healthy parents, by means of silicic acid column chromatog-raphy, have shown significant reductions in sphingomyelin and cephlin content as compared with normal controls. Similar changes were observed in 1 patient with Niemann-Pick and 1 with Gaucher''s disease. The findings in the heterozyous parents are thought to be a phenotypic expression of the single allele. The similarity of the changes in Tay-Sachs, Niemann-Pick and Gaucher''s disease indicate that at least 2 factors are concerned in the inheritance of these diseases, one common to all 3 and the other specific for each condition. The observations reported are consistent with the concept of inheritance of Tay-Sachs diseases as an autosomal recessive trait with complete penetrance.