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Posted in Genetic Disorders on Sep 3rd, 2007
What is Menkes syndrome?
Menkes syndrome is a genetic disorder that impacts how well the body stores and distributes copper.
Menkes is caused by a mutation in the ATP7A gene that results in poor distribution of copper through the body. Copper builds up in some tissues, such as the small intestine and kidneys, while areas like the [...]
Posted in Genetic Disorders on Sep 3rd, 2007
What is Prader-Willi syndrome?
Prader-Willi syndrome is the most common genetic cause of life-threatening obesity in children.
People with Prader-Willi syndrome have a problem in their hypothalamus, a part of the brain that normally controls feelings of fullness or hunger. As a result, they never feel full and have a constant urge to eat that they cannot [...]
Posted in Genetic Disorders on Sep 3rd, 2007
What is Turner syndrome?
Turner syndrome is a disorder caused by a partially or completely missing X chromosome. It is a condition that only affects females.
Most people have 46 chromosomes in each cell – 23 from their mother and 23 from their father. The 23rd pair of chromosomes is called the sex chromosomes – X and [...]
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