Storage diseases, genetic lipid

Table II. Genetic Lipid Storage Diseases Involving Sphingolipid Hydrolysis ...

However, very low plasma levels of HDL cholesterol are also found in patients with genetically disturbed metabolic pathways that are indirectly linked to HDL metabolism. For example, many patients with lipid storage diseases like Gaucher s disease (glucocerobrosidase deficiency, OMIM 230800-231000), Nieman-Pick disease types A or (sphingomyelinase deficiency, OMIM 257200 and 607616, respectively), Niemann-Pick disease type C (OMIM 257220), hypertriglyceridemia, or diabetes mellitus present with low HDL cholesterol [22]. 

R.A. Igel and R.A. Coleman, Neutral lipid storage disease a genetic disorder with abnormalities in the regulation of phospholipid metabolism, J. Lipid Res., 1998, 39, 31 33. 

Tay-Sachs disease is a lipid storage disease caused by an absence of the enzyme hexosaminidase, which functions in gan-glioside metabolism. As a result of the enzyme deficiency, the ganglioside, shown in Section 18.4, accumulates in the cells of the brain causing neurological deterioration, like Niemann-Pick disease, it is an autosomal recessive genetic trait that... 

The specific metabolic defect in each of the lipid storage diseases has been shown in all cases with the possibile exception of lactosylceramidosis. The enzymic defects have been reviewed many times (e.g. Neufeld et aL, 1975 Desnick et ai, 1976) and they are summarized in Table 12.5. Recently, there have been advances in our knowledge concerning the molecular basis of the disorders. It has been proposed that in these diseases, there is a genetic... 

Tay-Sachs disease is a fatal genetic disorder where harmful amounts of lipids called ganglioside accumulate in the nerve cells and brains of those affected. Infants with this disorder appear normal for the first several months of life, and then as the lipids distend the nerve cells and brain cells, progressive deterioration occurs the child becomes blind, deaf, and eventually unable to swallow. Tay-Sachs disease occurs mainly in Jewish children of Eastern European descent, and death from bronchopneumonia usually occurs by age 3 to 4 years. A reddish spot on the retina also develops, and symptoms first appear around 6 months of age. It is a lysosomal storage disorder with insufficient activity of the enzyme hexosaminidase A, which catalyzes the biodegradation of the gangliosides. The diagnosis is made by the clinical suspicion and serum hexosaminidase level. Currently there is no treatment available for this disease. 

S. Rosin, and E. Rossi Refsum s disease (heredopathia atactica polyneuritiformis) an inborn error of lipid metabolism with storage of 3,7,11,15-tetramethylhexadecanoic acid. IV. Formal genetics. Humangenetik 1 (1965) (in print). 

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