Gaucher's Disease

Question 1

Chemical components of red blood cells are broken down within ________ of macrophages due to actions of _________ enzymes.

Answer 1

Vacuoles; lysosomal

Question 2

________ of the red blood cells are made of lipids

Answer 2

30%

Question 3

__________ of red blood cells are removed by macrophages in the liver.

Answer 3

90%

Question 4

_______ of red blood cells are hemolyzed in circulation and then engulfed by macrophages.

Answer 4

10%

Question 5

Macrophages have an extensive enzymatic machinery to break down lipids and the enzyme we care about is called _____________

Answer 5

Glucocerebrosidase

Question 6

What is thrombocytopenia?

Answer 6

Low blood platelet number, resulting in easy bruising and slow clotting time

Question 7

What is jaundice?

Answer 7

Yellowish pigmentation of the skin, tissues and certain body fluids, caused by the deposition of bile pigments that follows certain liver disease

Question 8

___________ is when the sclera of the eye is yellow because of jaundice

Answer 8

Scleric icterus

Question 9

________ are nosebleeds

Answer 9

Epitaxis

Question 10

In ____________ when the spleen enlarged too much, it weeds out too many blood cells including good ones.

Answer 10

Chronic hemolytic anemia

Question 11

A ___________ causes increased production of blood cells in the bone marrow.

Answer 11

Myloproliferative disorder

Question 12

In Gaucher’s disease, we see an increased concentration of _________ in the blood, or immature red blood cells.

Answer 12

Retriculocytes

Question 13

1 in __________ ashkenazi jews are carriers.

Answer 13

12-15

Question 14

In the absence of __________, glucocerebroside accumulates in the lysosomes, resulting in elongation of the lysosomes that fill the cytoplasm of the macrophages, giving it the characteristic fibrillar or striated appearance.

Answer 14

Glucocerebrosidase

Question 15

What are the four methods of screening used to diagnose GD?

Answer 15

1. Blood test 2. Genetic testing 3. Prenatal screening 4. Preconception screening

Question 16

Cerezyme treat GD type I and is a recombinant DNA produce analog of _________

Answer 16

Glucocerebrosidase

Question 17

__________ is a hydrolytic lysosomal glucocerebroside-specifc enzyme with the same amino acid sequence as the human enzymes and treats GD I

Answer 17

VPRIV/ Velaglucerase alfa

Question 18

___________ treats GD I and is an inhibitor of the enzyme glucosylceramide synthase which halts the production of glucosylceremide.

Answer 18

Miglustate/ Zavesca

Question 19

GD is a ___________ disease

Answer 19

Autosomal recessive

Question 20

__________ is a plant cell expressed recombinant glucocerebrosidase enzyme produced in a slurry of carrot cells

Answer 20

Elilyso/ teleglucerase alpha