Prenatal Genetic Diagnosis

Authors:
  • AMAubrey Milunsky
    Aubrey Milunsky
  • JLJohn W. Littlefield
    John W. Littlefield
  • JKJulian N. Kanfer
    Julian N. Kanfer
  • EKEdwin H. Kolodny
    Edwin H. Kolodny
  • VSVivian E. Shih
    Vivian E. Shih
  • LALeonard Atkins
    Leonard Atkins
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Abstract
Disorders of Lipid MetabolismSphingolipids are major components of all cell membranes and of particular importance to neural structure and function. In several well defined clinical disorders (Table 1), recently reviewed by Brady,175 the accumulation of excessive quantities of particular sphingolipids can be demonstrated together with deficiencies of their respective sphingolipid hydrolases.Niemann—Pick DiseaseHoltz et al.,71 in 1964, by using quantitative thin-layer chromatography, first demonstrated that cultured fibroblasts from patients with Niemann—Pick disease accumulate almost twice as much sphingomyelin as control cells do. At the same time, they showed that fibroblasts derived from the amnion of an infant subsequently . . .
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