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Metabolic Disorders: Sphingolipid Analysis

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INTRODUCTION Lipidoses can be defined as inherited metabolic disorders where lipids accumulate in cells and tissues; sphingolipidoses are autosomal recessive inherited metabolic disorders in which the lipid that accumulates is a sphingolipid.(1) Sphingolipids are any member of a class of lipids that contain sphingosine, an organic aliphatic amino acid, or substances that are structurally similar to sphingosine. (2). The main sphingolipids discussed will be gangliosides, globosides, ceramides and sphingomyelinases. The lipidoses to be focused on will be Tay-Sachs (A & B variants), Sandhoff disease, Gaucher disease and Fabry disease and how each of the diseases are caused by impaired sphingolipid degradation. Treatments available for sphingolipidoses will also be briefly discussed, primarily gene therapy and enzyme replacement. (3) …show more content…

These symptoms are caused by the build up of GM2-ganglioside in the nerve cells within the brain. It has a heterozygote frequency of 1:27 among Ashkenazi Jews, which is significantly higher than the average heterozygote frequency. (9). It can be divided into three forms; infantile, juvenile and adult, depending upon when the symptoms present, however most present as infantile form. This is indicative of sphingolipidoses which often present in early childhood and have a progressive neurodegenerative pathway. (10) If a woman becomes pregnant and knows/believes that she is a carrier, tests to determine if the child has Tay-Sachs can be carried out in utero. Analysis of chorionic villi can be conducted at both 9 and 11 weeks of pregnancy. (11) Cellulose acetate electrophoresis, enzyme assays and anion exchange chromatography can be used to determine the presence or absence of beta hexosaminidase activity is present.

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