Gaucher Disease

What is it?

Symptoms

Diagnosing

Treatment

an autosomal recessive inherited disorder of metabolism where a type of fat can't be adequately degraded

people with Gaucher Disease don't make enough glucocerbrosidase (breaks down, recycles part of cell membrane)

leads to lipid build up in liver, spleen, bone marrow, and nervous system

caused by mutations in a gene called GBA

Type 2

Major symptoms

Type 3

enlargement of liver and spleen, anemia, easy bruising, bone disease, heart, lung, and nervous system problems

Type 1

bone disease, hepatosplenomegaly, anemia, thrombocytopenia, lung disease

symptoms from type 1, and other problems involving the nervous system (eye problems, seizures and brain damage). Begins at infancy. usually don't live past age of 2

symptoms from type 1,

more slow and progressive disease, often show symptoms before age of 2

clinical symptoms and lab testing

enzyme replacement therapy

spleen removal, blood transfusions, pain medications, joint replacement