Medical Definition of Infantile GM2 gangliosidosis
1.
A genetic disorder found in east European Jewish families which can result in early death bu affecting the brain and nerves by causing abnormal lipid metabolism. It is a lysosomal disease in which there is a deficiency of hexosaminidase A, an enzyme that degrades ganglioside GM2.
Symptoms appear at age 3-6 months and include blindness, deafness, seizures, paralysis, dementia, decreased muscle tone and growth retardation. There is no known treatment and most children usually die between 2 and 5 years of age.
Inheritance: autosomal recessive.
(06 Oct 1997)
Lexicographical Neighbors of Infantile GM2 Gangliosidosis
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