a
reduction in the number or concentration of red blood cells
or hemoglobin
Enzyme
a
protein that either makes or breaks down other substances;
in type 1 Gaucher disease the enzyme glucocerebrosidase breaks
down the substrate glycosylceramide
Enzyme replacement
therapy (ERT)
intravenous
(IV) glucocerebrosidase
Gaucher cell
a
macrophage that is enlarged from built-up glucosylceramide
substrate
Glucocerebrosidase
the
enzyme that is deficient in type 1 Gaucher disease; its job
is to break down
the substrate glucosylceramide
Glucosylceramide
the
fatty substrate that accumulates primarily in the macrophages
of people with type 1 Gaucher
disease
Hemoglobin
the
protein that carries oxygen in red blood cells
Liver
a
large abdominal organ with important metabolic functions;
one of
the main organs where glucosylceramide builds up in
type 1 Gaucher disease
Lysosome
a
sac-like compartment inside cells where
enzymes break down
substrates; this is where glucosylceramide substrate builds
up in type 1 Gaucher disease
Macrophage
a cell that
helps your body break down glucosylceramide substrate
Platelet
A
cell that helps blood to clot; bruising and bleeding may
happen when platelet
count is low
Spleen
the
organ that filters and stores blood and destroys abnormal
red blood cells
Substrate
a
substance that is acted on by an enzyme
Substrate reduction
therapy (SRT)
an
oral therapy that reduces the amount of substrate made so
there is less
for the naturally occurring enzyme to break down
Type
1 Gaucher disease
a rare genetic
disorder where the naturally occurring enzyme glucocerebrosidase
is deficient, causing buildup of glucosylceramide substrate
primarily in macrophages; this accumulation leads to spleen
and liver enlargement, low platelet count, and anemia
