Genetic Components
Gaucher Disease
Gaucher Disease is an autosomal recessive inherited disorder of metabolism.
Gaucher disease is caused by changes in a single gene called GBA
Occurs in about 1 in 50,000 to 1 in 100,000
Symptoms include:
-Enlargement of the liver and spleen
-Low number of red blood cells
-easy bruising
-bone disease
Diagnosed based on clinical symptoms and lab testing.
Treatment for Gaucher Disease is enzyme replacement therapy
Enzyme replacement therapy is given every two weeks and helps stop progression and can reverse symptoms
Three types of Gaucher Disease
Type 1 - includes bone disease, hepatosplenomegaly, anemia, and lung disease
Type 2 - include symptoms of Type 1 but also involve problems such as eye problems, seizures, and brain damage.
Those with Type 2 do not live beyond the age of two
Type 3 -include symptoms of Type 1 but also involve problems such as eye problems, seizures, and brain damage.
Individuals with Type 3 may have symptoms before they are two years old but their disease is more slowly progressive
Progeria
Rare genetic disease of childhood characterized by dramatic, premature aging
Children appear normal but within a year their growth rates slow and they are much shorter and weigh less than others their age
Normal intelligence, appearance changes by baldness, aged-looking skin, pinched nose, small face and jaw compared to their head size
There is no treatment for Progeria
Death usually occurs from heart attack or stroke. On average death occurs at age 13.
Other symptoms seen in older people are stiffness of joins, hip dislocations, and severe progressive cardiovascular disease
Progeria is caused by a tiny point mutation in a single gene known as lamin A or LMNA
LMNA Gene is responsible for half a dozen other genetic disorders
Test available for Hutchinson-Gilford progeria syndrome
Doctors used to base their decision off of physical symptoms such as skin changes and failure to gain weight