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Biochem 2 > diseases > Flashcards

diseases Flashcards

exam2

1
Q

represents the accumulation of many mutations over time leading to malignancy

A

familial adenomatous polyposis

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2
Q

fucosylation deficinecy, bombay blood type

A

Leukocyte adhesion def.

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3
Q

Glucokinase def

A

MODY

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4
Q

niacin deficient

A

Pellagra

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5
Q

RBC PK isosyme affected; anemia

A

RBC pyruvate kinase

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6
Q

muscle PFK1 defective, easily fatigued, consuming fructose relieves symptoms

A

Tauri’s

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7
Q

elevated bilirubin due to mut. in UGT

A

Gilbert’s syndrome

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8
Q

COAT/acute

A

wernicke

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9
Q

RACK/chronic

A

Korsafoff

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10
Q

cardiovascular

A

wet beri beri

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11
Q

PNS

A

dry beri beri

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12
Q

glossitis chielosis

A

riboflavin/ B2

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13
Q

predisposition to kidney cnacer/uterine fibroids

A

Fumarase mut.

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14
Q

paragnaglioma/pheochromocytoma

A

Succinate DH

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15
Q

Pantothenic vit B5

A

burning feet

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16
Q

Pyridoxine B6

A

stomatitis, chielitis, irritability

17
Q

biotin def

18
Q

RBC Heinz bodies

A

Glucose 6 phosphate DH

19
Q

Glucose 6 phosphatase

A

Von Gierke

20
Q

Glucose 6 transported

A

Von Gierke type B

21
Q

alpha-1-4-glucosidase

22
Q

debranching enzyme

23
Q

branching enzyme

A

Andersen’s

24
Q

Glycogen phosphorylase muscle

25
Glycogen phosphorylase liver
Hers
26
no glycogenolysis/gluconeogenesis leading to severe hypoglycemia, hepatomegaly, lactic acidosis
Von Gierke
27
Normal blood glucose, cardiomegaly, heart failure
Pompe
28
dextrin like molecules
cori
29
long and linear; hepatosplenomegaly
Andersen's
30
Exercise problems starting in adulthood; red tinge in urine
McArdle
31
Hepatomegaly/ mild hypoglycemia
Hers

Biochem 2 (14 decks)

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