diseases Flashcards
exam2
1
Q
represents the accumulation of many mutations over time leading to malignancy
A
familial adenomatous polyposis
2
Q
fucosylation deficinecy, bombay blood type
A
Leukocyte adhesion def.
3
Q
Glucokinase def
A
MODY
4
Q
niacin deficient
A
Pellagra
5
Q
RBC PK isosyme affected; anemia
A
RBC pyruvate kinase
6
Q
muscle PFK1 defective, easily fatigued, consuming fructose relieves symptoms
A
Tauri’s
7
Q
elevated bilirubin due to mut. in UGT
A
Gilbert’s syndrome
8
Q
COAT/acute
A
wernicke
9
Q
RACK/chronic
A
Korsafoff
10
Q
cardiovascular
A
wet beri beri
11
Q
PNS
A
dry beri beri
12
Q
glossitis chielosis
A
riboflavin/ B2
13
Q
predisposition to kidney cnacer/uterine fibroids
A
Fumarase mut.
14
Q
paragnaglioma/pheochromocytoma
A
Succinate DH
15
Q
Pantothenic vit B5
A
burning feet
