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Flashcards in BLUE BOXES Deck (46):
1

gastric proton pump inhibitors

proton pump = H+/K+ ATPase
parietal cells
pumps H+ to lumen -> HCl

PPIs decrease HCl production (reduce acidity)

2

chelating agents for lead poisoning

Pb+ binds to heme, impairs heme synthesis
treat w/ Ca-EDTA (chelating agent)
displaces Pb from heme
abdominal pain, anemia, headaches
(heme not formed, RBCs, anemia)

3

troponin in myocardial infarction

isozyme in wrong place (blood, different organ, etc) -> sign of damage/disease
ex: run troponin lab test to indicated MI

4

respiratory acidosis

hyporventilation -> rise in CO2 -> drives equation to left -> increase H+, dec. pH

5

metabolic acidosis

strong acid (ex: lactate, ketone bodies) -> diarhea -> loss HCO3- -> drive equation to left -> increase H+, dec. pH

6

metabolic alkalosis

strong base (antiacid) or loss of acid (vomiting) -> increase HCO3- -> drive equation to right -> increase CO2

7

phosphatidylserine significance

marker for apoptosis when moved to extracellular membrane (typically facing inside of cell)

8

Niemann-Pick Disease

Deficiency: acid spingomylenase
Buildup of SM in lysosomes, bone marrow, CNS, liver
Result: hepatomegaly, neuro symptoms, cherry red spot on eye

9

Type O Blood Group

universal donor
RBC has no Ags on surface
has Abs against A + B
can only receive from type O

10

Type AB Blood Group

universal acceptor
RBC has Ag A + B on surface, no Abs against either type

11

Spur Cell Anemia

high levels of cholesterol -> decreased fluidity of RBCs membranes -> lyse in capillaries of the spleen

12

Cardiotonic Drugs

used to treat CVD (ouabain)
inhibit Na+/K+ATPase -> increased Na+ in cell -> increase Ca2+ in cell due to slowed NCX -> inc. contraction

13

Cystinuria

Deficiency: dibasic AAs transporter -> cystine crystals, renal stones -> renal colic

14

Hartnup disease

deficiently in nonpolar AA transporter -> tryptophan buildup in kidney/intestine --> failure to thrive, nystagmus, ataxia

15

Cystic Fibrosis

mutation in CFTR (Cl- transporter) -> Cl- buildup in lung cells -> Na+ and H2O follow -> mucous surrounding cells becomes dehydrated/sticky

16

Crohn's Disease

diseased bowel sections -> poor absorption -> nutritional deficiencies

17

Sweeteners - sugar alcohols

used as artificial sweeteners
little is metabolized
absorbed in SI -> excreted in urine -> less fluctuation in BS

18

Gallstones

gall bladder stores bile, if contains too much cholesterol -> bile hardens to stones

19

Fanconi-Bickel syndrome

GLUT2 transporter deficiency
glucose can't be released, glycogen gets trapped in liver -> hepatomegaly

20

Fructose 1,6 bisphosphate deficiency

enzyme in glycolysis deficient -> hypoglycemia

21

Von Gierke Disease/ GSD 1

deficiency in glucose-6-phosphatase -> free glucose can't get out of liver b/c its phosphorylated -> hypoglycemia, lactic acid, hepatomegaly (glycogen buildup)

22

High fructose corn syrup -> obesity

fructose enters glycolysis after rate limiting step (PFK) -> converted easier to FAs

23

galactosemia

deficiency in galactose enzyme -> galactose in blood -> cataracts

24

GSD0

glycogen synthase deficiency --> hypoglycemia

25

GSD II/Pompe Disease

acid maltase deficiency
lysosomal glycogenolysis disrupted -> glycogen buildup (can't break it down)
ENZYME REPLACEMENT THERAPY

26

GSD III/Cori Disease

deficiency in debranching enzyme of glycogenolysis -> enlarged liver from glycogen buildup

27

GSD IV/Andersen Disease

deficiency in glucosyl (4:6) transferase -> can't branch glycogen -> enlarged liver, cirrhosis

28

GSD V/McArdle Disease

deficiency in muscle glycogen phosphorylase in muscle (RL enzyme of glycogen breakdown)
no glycogen production in muscle

29

GSD VI/Her's Disease

deficiency in liver glycogen phosphorylase
(RL enzyme in glycogen breakdown), enlarged liver

30

MCAD Deficiency

Medium chain FAs can't be broken down
secondary carnitine deficiency (largely excreted)
FAs accumulate in liver, elevated ammonia, depend on glucose for energy

31

2-oxoglutaric acid aciduria

developmental delay, metabolic acidosis

32

fumarase deficiency

neuro impairment, fatal, encephalopathy, increase excretion of intermediates of TCA cycle

33

Luft's disease

first mito disorder discovered --> hypermetabolism (high caloric intake, no weight gain, weakness
uncoupled ETC

34

Hyperhomocysteinemia

Caused by Vitamin deficiciencies (B6, B12, and folic acid) —> defective metabolism —> atherosclerotic HD and stroke, eye lens dislocation, osteoporosis, mental retardation

35

Phenylketonuria (PKU)

Defects in phenylalanine hydroxylase activity
Inborn error —> musty urine smell
Disrupt Neuro transmission, block AA transport in the brain, block myelin formation

36

Maple Syrup Urine Disease

Deficiency of keto acid dehydrogenase —> branched chain AAs in urine —> burnt maple sugar smell in urine
Toxic effects on brain
Limit brained chain AA (Val, Leu, Ile)

37

Grave’s disease

Hyperthyroidism—> treat w/ agents that block thyroglobulin (produces the thyroid hormones)

38

albinism

Tyrosine to melanin reaction is deficient —> Lack of melanin

39

Parkinsonism

Neural tissue destruction —>Loss of dopa to dopamine —> tremors, difficulty in movement
Defects in tyrosine hyroxylase

40

Ammonia toxicity

Ammonia can cross blood brain barrier
PH imbalance, edema,
Inhibits TCA cycle b/c of decreased a-ketoglutarate

41

Sulfa drugs

Only act on bacterial enzymes, don’t harm humans
Inhibits DNA replication

42

Methotrexate

Down regulates purine synthesis
Used as cancer drug

43

Acyclovir

Deprive cells of GMP
Antiviral
Incorporates itself into DNA -> terminates replication
Can be used to promote healing of sores

44

Severe combined immunodeficiency

B and T cells impaired
Low levels of dNTPs impair DNA synthesis —> immune system is compromised

45

Gout

High levels of Uric acid —> accumulates in joints, especially lower extremities
Can be triggered by high purine diet (meat, EtOH)
Diagnosed by UA

46

Lesch-Nyah’s syndrome

Defect in purine salvage pathway —> high uric acid —>
—> gout, kidney stones, poor muscle control, mental retardation