Accumulations Flashcards
1
Q
Ceramide trihexoside
A
Fabry’s Disease
2
Q
Glucocerebroside
A
Gaucher’s disease
3
Q
Sphingomyelin
A
Niemann-Pick Disease
4
Q
GM2 ganglioside
A
Tay-Sach’s Disease
5
Q
Galactocerebroside
A
Krabbe’s disease
6
Q
Psychosine
A
Krabbe’s disease
7
Q
Cerebroside sulfate
A
Metachromatic leukodystrophy
8
Q
Heparan sulfate & Dermatan Sulfate
A
Hurler’s and Hunter’s syndrome
9
Q
Severe fasting hypoglycemia, Increased glycogen in liver, increased blood lactate, hepatomegaly
A
Von Gierke’s
10
Q
Cardiomegaly and systemic findings leading to early death
A
Pompe’s disease
11
Q
Milder form of von gierke’s with intact gluconeogenesis and normal blood lactate
A
Cori’s disease
12
Q
increased glycogen in muscle, but cannot break down leading to painful muscle cramps and myoglobinuria with strenuous exercise
A
McArdle’s Disease
