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Tay-Sachs disease

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Ashkenazim

Ashkenazim  

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Overview Page
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Religion
Jews whose ancestors lived in the Middle Ages in Germany and the surrounding countries, as distinct from those with a Spanish or oriental ancestry, the Sephardim. The name Ashkenaz in the Bible ...
Batten's disease

Batten's disease  

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Overview Page
One of a group of rare hereditary disorders (known as the neuronal ceroid lipofuscinoses) that also includes Tay-Sachs disease. Fatty substances accumulate in the cells of the nervous system, causing ...
blindness

blindness  

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Overview Page
n. the inability to see. Lack of all light perception constitutes total blindness but there are degrees of visual impairment far less severe than this that may be classed as blindness for ...
ganglioside

ganglioside  

A family of complex lipids containing sphingosine, fatty acids, carbohydrates, and neuraminic acid. The Gm2 ganglioside that accumulates in the brain of patients with Tay-Sachs disease (q.v.) is ...
Gaucher disease

Gaucher disease  

A genetically determined (autosomal recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It results in mental ...
GM2-activator protein

GM2-activator protein  

A glycosylated protein (162 amino acids), encoded as a precursor by a gene at 5q32‐q33, that is essential for hydrolysis by lysosomal β‐hexosaminidase A (see hexosaminidase). Deficiency can result ...
hexosaminidase

hexosaminidase  

An enzyme functioning in the catabolism of gangliosides (q.v.). Hexosaminidase A is composed of alpha and beta subunits coded for by genes on human autosomes 15 and 5, respectively. Mutations at ...
lipid disorders

lipid disorders  

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Overview Page
The major lipid disorders (lipidoses) are ones in which plasma lipid levels are abnormal, as in hyperlipidaemia, hypercholesterolaemia and chylomicron retention disease. See also apolipoprotein B; ...
lipidosis

lipidosis  

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Overview Page
(lipoidosis) n. ( pl. lipidoses) any disorder of lipid metabolism within the cells of the body. The brain lipidoses (see Gaucher’s disease, Hunter’s syndrome, Hurler’s syndrome, Tay-Sachs disease) ...
Sandhoff disease

Sandhoff disease  

A lysosomal storage disease (q.v.) with symptoms similar to the Tay-Sachs disease (q.v.). K. Sandhoff and three colleagues published the first description of the condition in 1968. The Sandhoff and ...
saposin

saposin  

A set of small Trp-free, multifunctional glycoproteins (co-β-glucosidase, A1 activator, glucosylceramidase activator, SAP-A–D, 81 aa) derived from a single precursor, prosaposin, that act as ...
storage diseases

storage diseases  

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Diseases in which there is a deficiency of a lysosomal enzyme and undigested substrate for that enzyme accumulates within cells. The storage diseases are not immediately fatal, but within a few years ...

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