Gouches Disease Flashcards
1
Q
Enzyme Deficiency
A
Glucocerebrosidase
2
Q
Lipids accumulate in the …
A
Macrophage
3
Q
Type of inheritance
A
Auto recessive
4
Q
Type of therapy?
A
Enzyme replacement therapy
5
Q
Type of glucosphingolipid that accumulates?
A
Glucocerebroside
6
Q
Different types of Gaucher
A
Type 1 - most common, not neurologic
Type 2 - Neurologic, death by age 2
Type 3 - Milder neurologic disorders, Death by teens or adulthood
7
Q
Signs
A
Hepatosplenomegaly, easy bruising, bone weakness,
8
Q
Activity level of glucocerebrosidase to be considered Gaucher’s?
A
30% normal avtivity
9
Q
Prevalence in Ashkanazi Jewish?
A
1/15 are herterozygous carriers
