Familial hypercholesterolemia lipid metabolism

The cell-surface glycosphingolipids and other lipids in the fibroblasts from a family with familial hypercholesterolemia have been examined after they had been oxidized with D-galactose oxidase and then reduced with sodium borotritide. Comparisons of the radiolabel incorporated by homozygous, heterozygous, and normal fibroblast cells suggested that the defective metabolism of lipids in this disease is more extensive than previously realized. Gangliosides and asialo-G j have been shown to accumulate in the cerebrospinal fluid of a patient with SandhofTs disease. ... 

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