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An Overview of Tay Sachs Disease

The results of such testing facilitates the conduct of effective genetic counseling of families at risk, for the only known method of reducing the incidence of recessive disease in a population is to identify all carriers of harmful genes (Davies, & Doran, 1982).

Physiology and Effects of an Enzymatic Defect

TaySachs disease is a neurologic degenerative disease, in which the pathological effect stems from the absence of the enzyme hexosaminidase A, and the consequent accumulation of

ineffectively utilized fatty substances, which cause cellular degeneration through the building up of deposits (Rothwell, 1977). It is a disease of lipid storage, in which sphingolipid ganglioside accumulates in the cytoplasm of the brain (Strickgerger, 1976).

Microscopic examination of an affected subject will show swollen, or ballooned, neurons (Schniderman, & Lowder, 1976). Electron microscopic examination will show lamellar membranous bodies that form round cytoplasmic inclusions, which consist of concentric layers of stored lipid (Schniderman, & Lowder, 1976). As a result of such lipid storage, brain weight approximates 150 percent of normal by the time of death, and a proportionate increase in head size also occurs (Schniderman, & Lowder, 1976).

The stored lipid is a glycospningolipid, because it contains a sugar molecule, and a terminal Nacetyglucosamine, with a large lipid structure, which contains a longchain basic molecule to which fatty acids are attached (Strickberger, 1976). The accumulation results from an absence of the hexosaminidase A enzyme (Rothwell, 1977).

TaySachs infants appear to be normal at birth (Paritsky, 1985); however, at an age of fiveandonehalf monthstosix months, a progressive decline, or a failure to develop as anticipated becomes apparent to parents, in many cases, although such outcome often does not occur until the child is in the nineto13 months age range (Paritsky, 1985)...

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An Overview of Tay Sachs Disease. (1969, December 31). In Retrieved 00:08, November 26, 2015, from
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