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