Abstract
Following the elucidation of the enzymatic defects in the sphingolipid storage disorders in the late 1960s and early 1970s, the predictions concerning the development of rapid diagnostic and carrier detection tests and the ability to monitor pregnancies at risk for any of these disorders1 have now been fulfilled. Accurate genetic counseling is in world-wide use, and its application has led to the control of the incidence of many of these life-threatening conditions.2 Current research in sphingolipids is evolving in three primary directions. The first is the elucidation of pertinent aspects of the pathological biochemistry that underlies these conditions. The second is devoted to discovering the genetic alterations in diseases. The third is the development of effective therapy for these disorders. Because the medical aspects of the sphingolipidoses have been reviewed so frequently and these summaries are readily available, 1,3–5 specific clinical manifestations of the various disorders are indicated only where required to indicate an approach to the abnormal biochemistry, genetic mechanism, or strategy for treating these conditions.
Keywords
- Culture Skin Fibroblast
- Metachromatic Leukodystrophy
- Sandhoffs Disease
- Sphingomyelinase Activity
- Lipid Storage Disorder
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Brady, R.O. (1985). Lipidoses. In: Lajtha, A. (eds) Pathological Neurochemistry. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0797-7_5
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