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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Glossary

There are 9 entries in this glossary.
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Term Definition
Ganglioside

Any of a group of glycolipids that yield a hexose sugar on hydrolysis and are found especially in the plasma membrane of cells of the gray matter.

Definition from: Merriam-Webster's Medical Dictionary http://www.m-w.com/ by Merriam-Webster Inc.

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Gene

Often referred to as the "unit of heredity". A gene is composed of a sequence of DNA required to produce a functional protein.

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Genetic counseling

As defined by the National Society of Genetic Counselors, is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates:

-Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.

-Education about inheritance, testing, management, prevention, resources and research.

-Counseling to promote informed choices and adaptation to the risk or condition.

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Glucocerebrodidase

The glucocerebrodidase enzyme is necessary for the breakdown of a particular fatty substance, glucocerebroside into glucose and ceramide. Gaucher disease is characterized by its absence.

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Glucocerebroside

A type of fat (lipid) molecule accumulates in individuals with Gaucher disease and is used as a building block to make certain cell membranes. When the cells wear out, the glucocerebroside can be recycled. This recyclable material comes mainly from the breakdown of old red and white blood cells. In the brain, glucocerebroside comes from the processing of lipids during brain development and the formation of the myelin sheath (the fatty coating around each nerve fiber).

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Glucose

Simple sugar; the form in which all carbohydrates are used as the body's principal energy source; transported in the blood and metabolized in the tissues.

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Glycogen

Form in which foods are stored in the body as energy.

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Glycogen storage disorders

A class of disorders characterized by the build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system.

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GM2 Ganglioside

A fatty substance or lipid that is part of normal metabolism, in Tay-Sachs and Sandhoff lack of enzyme function causes the GM2 gangliosides to accumulate which is toxic and eventually causes cell death.

Tay-Sachs and Sandhoff are known collectively as GM2.

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