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More Free USMLE , MCCEE ,MCQe and AMQ Flashcards

what is the rate limiting reaction in

HMG Co reductase
cholesterol synthesis?

name this condition

mousy odor, tyrosine missing,

hence it must be supplied in the PKU
diet, can diagnose by **no nutrasweet!!!
amniocentesis and finding the
abnormal gene; eliminate
phenylalanine from diet
inability to phsophorylate the
mannose residues of potential
lysosomal enzymes located in
what is I cell disease? Golgi apparatus, hence they
cannot be taken up by the
lysosomes to degrade complex

explain the number of glucoses 4 glucoses, each glucose

necessary to build palmitic acid a produces 2 acetyl CoA the latter
16 carbon compound containing 2 carbons each

decreased glycolysis,
what is the result of a lack of
glycogenesis, fatty acid synthesis,
insulin in DKA?
storage of fat in adipose
alcohol and salicylates

name some uncoupling agents and produces brown fat from increased
explain what they do heat from reactions trying to
increase the generation of more
protons to make ATP
decreased glucose 6-phosphatase
(gluconeogenic enzyme) with
decrease in glucsose (fasting
hypoglycemia) and increase in
glucose 6-phosphate with
what is Von Gierke's disease?
production of normal glycogen in
the liver and kidneys; stimulation
tests with glucagon, fructose, etc.
cannot increase the glucose levels
owing to the missing enzyme

explain the biochemical processes urea cycle, heme synthesis,

in both cytosol and mitochondria gluconeogenesis

what dietary alteration would you decreased phenylalanine

suggest for a female that has (essential AA) and tyrosine (not an
pheochromocytoma? essential AA) in the diet

low in phenylalanine and high in

how would you counsel a patient tyrosine-->avoid nutrasweet since
with PKU who was pregnant? it contains aspartate and

SXR with absent HGPRT, self

what is Lesch Nyhan? mutilation, hyperuricemia, mental
only in the liver
High Vm and high Km, not
inhibited by glucose 6-phosphate
where is glucokinase located?
hexokinase, in all tissues inhibited
by glucose 6-phosphate; low Vm
and low Km

what tissue can metabolize

branched chain amino acids in only muscle
maple syrup urine disease?

know glycogenolysis! .....

fructose 1, 6 bisphosphatase
what is the key enzyme in
catalyzes the conversion of
fructose 1,6-bisphosphate to
fructose 6-phosphatase

liver, kidney, intestinal epithelium

what the locations of glucose 6-
(lesser extent than others) absent
in von Gierke's disease!

what does the carnitine shuttle

even chained fatty acids

what does the malate shuttle

vitamin D synthesis, other steroid,
what are the functions of LDL? cell membranes, synthesis of bile

FA syntheisis
CH synthesis
Uses of acetyl CoA? ketone body synthesis
***not a substrate for
competitive vs. non-competitive
inhibitors, competitive (i.e. alcohol
dehydrogenase binding ethanol,
methanol, ethylene glycol at the
same binding site) has no change
in Vm but an increase in Km (lower
affinity for ethanol, increasing
ethanol reverses the inhibtion)
non-competitive inhibitor
discuss Km and Vmax Lineweaver
(organophosphates and effect on
acetylcholinesteratse does not
bind to the same site as
acetylcholine, binds to another site
on the enzyme that decreases
velocity of the reaction) has a
decrease in Vm, but the Km
remains the same, since the
substrate still binds to the normal

what is the relationship between

fatty acid length and energy ....
what is the method of eliminating urea cycle
ammonia? **located in the hepatocyte

what is the differential if

epinephrine is given and only small debrancher deficiency
branched chains found?

draw cholesterol synthesis -----

what is the rate limiting step in

glycogen phosphorylase

what is the origin of apolipoprotein


what is the origin of apolipoprotein


liver cannot activate acetoacetate

in the mitochondria which requires
what is the reason why liver can succinyl CoA; acetoacetate CoA
not use ketones for fuel? transferase (a thiotransferase
enzyme) in order to convert AcAc
into acetoacetyl CoA
absent muscle phosphorylase,
what is wrong in McArdles increased glycogen in muscle, no
disease? increase in lactic acid after
folate because alcohol increases
loss of folate in urine and stool
which offsets the amount of folate
A pregnant woman is a beer
present in beer; furthermore she
drinker---> what supplements does
would probably be taken off beer
she need?
because of fetal alcohol syndrome
and would need folate; iron is not
affected by beer drinking

what is the key hormone of the fed


what is the key hormone of the

fasting state?

know all the lysosomal storage


mannose 6-phosphate is involved

mannose 6-phosphate is involved in transfer of dolichol (lipid) in the
in what? RER in the synthesis of O-linked
what are the reactions involving

HMP shunt; malate

what is the major source of dehydrogenase reaction to a
NADPH? lesser extent; NADPH supplies
reducing equivalents
Mutation changes an amino acid one with the most negative
sequence--> which one would charges (most acidic) glutamine;
have the greatest effect on one that would remain closest to
migration in a serum protein the anode (negative pole) is the
electrophoriesis? most basic amino acid--arginine
increased beta-oxidation of fatty
what is the mechanism of acids and production of acetyl CoA
ketoacidosis in DKA which is used by the liver to
synthesize ketone bodies

linear gene drawing with labels;

where is the promotor location?
pick upstream location

what is the energy source for

protein synthesis?

what isoenzymes have 2 genes
and 4 subunits? 5 isotypes = LLLL, LLLH, LLHH,
name the second messanger
atrial natriuretic peptide

name the second messanger

tyrosine kinase

name the second messanger

ion channels

what is the best method of

restriction fragment lenght
detecting relatedness of a new

what is the enzyme used for PCR? DNA polymerase

what is the source of glucose in a alanine--> transaminated into

brain in starvation? pyruvate

carriers ammonia in nontoxic form

what is the purpose of glutamine?
**most abundant amino acid
synthesis of melanin, synthesis of
neurotransmitters (dopamine, Nor,
what is the purpose of tyrosine?
Epi) decreased in PKU (must
supply tyrosine in diet)
inhibitory neurotransmitter blocked
by tetanus toxin, synthesis of delta
what is they purpose of glycine? aminolevulinic acid in heme
synthesis, synthesis of bile
increased in aromatic amino acids-
-> phenylalanine, tyrosine,
tryptophan (menonic PTT) leads to
increased synthesis of false
what is the biochemistry of hepatic neurotransmitters (GABA,
encephalopathy? ocopamine) in hepatic
encephalopathy; branched chain
amino acids inhibit synthesis of
false neurotransmitters---reason
why they are given for treatment
Acid yields H+ and its conjugate
Acid dissociates in water to yield
_____ and ______.
Base combines with H+ to form its
conjugate acid.
Base combines with _____ in
water to form ______.
(Acid=proton donor, base=proton
Acidic dissociation constant Ka
Stronger acids have higher Ka
Strong acid has a high/low Ka?

pKa= -log(Ka)
Strong acid: pKa<2
Strong acid has high/low pKa?
Weak acid: pKa>10
Henderson-Hasselbalch equation pH=pKa + log([A-]/[HA])


(negatively charged DNA loops 2x

Which histone is not in the around the positively charged
nucleosome core? histone octamer (2 sets of H2A,
H2B, H3, H4). H1 ties the
nucleosome beads together in a

Condensed, transcriptionally
inactive (sterically inaccessible)

Less condensed, transcriptionally

active (sterically accessible)

A, G
Which are purines?
2 rings
How many rings?

C, T, U (CUT the PY)
Which are pyrimidines?
1 ring
How many rings?
Deamination of _____ makes


Have 3 H bonds between them

Which nucleotides have a stronger
instead of just 2 in AG bonds
bond? Why?
(Higher G-C content=higher
melting point)
Nucleoside=base + ribose
Nucleotide=base + ribose +
Nucleotide? phosphate (linked by 3'-5'
phosphodiester bond)

Amino acids needed for purine Glycine, aspartate, glutamate

synthesis? (make up back bone of purines)

Guanine has a ______. Ketone

Thymine has a _______. Methyl

Converson of 5'-phosphoribosyl-1-
pyrophosphate (PRPP) to 5'-

Committed step of de novo purine Enzyme: glutamine PRPP

nucleotide synthesis amidotransferase

(Enzyme activated by PRPP and

inhibited by the end products:IMP,
GMP, and AMP)
GTP is a substrate of AMP
synthesis and ATP is a substrate
Reciprocal substrate effect: how for GMP synthesis
does it balance the supply of
purine nucleotides? Both AMP and GMP are made
from IMP and can convert back to
Aldehydes or ketones
Monosaccharides (simplest
carbohydrates) are _____ or
(glucose is an aldose, fructose is a
Pyranose=6 membered ring
Pyranose sugars contain a (#)
(glucose, galactose)
membered ring whereas furanose
sugars contain a (#) membered
Furanose=5 membered ring
(fructose, ribose, deoxyribose)

Ascorbic acid (vitamin C)

Deficiency of this monosaccharide
derivative causes scurvy
Needed to synthesize collagen

Monosaccharide derivative needed

to form direct bilirubin and Glucuronic acid
glycosaminoglycans (GAGs)
Which sugar alcohol derived from
(osmotic damage in
glucose leads to osmotic damage
lens=cataracts, Schwann
of tissues in diabetes mellitus?
cells=peripheral neuropathy,

Maltose= ____ + _____ Glucose + glucose

Lactose= ____ + _____ Glucose + galactose

Sucrose= _____ + ______ Glucose + fructose

Enzyme to digest starch


Glycogen phosphorylase cleaves

Enzyme to cleave glycogen at alpha-1,4 linkages to release
glucose units
Supplies no energy; human
digestive enzymes cannot
hydrolyze BETA-1,4 linkages
(insoluable fiber)
Human enzymes cleave other
polysaccharides like glycogen and
starch at alpha-1,4 linkages.
This and other GAGs are
negatively charged
Hyaluronic acid
polysaccharides that form a major
part of ECM

Simplest lipids Fatty acid

Only 2 fatty acids that are essential

Linoleic and linolenic
(must be supplied in diet)

Most are even

Do most fatty acids have an
even/odd # of carbon atoms?
Vit B12 (methylmalonyl-CoA
mutase requires B12 as a cofactor.
What is required for metabolism of
If no B12, methylmalonyl-CoA
odd chained fatty acids?
accumulates and damages myelin)

Unsaturated fatty acids contain

Double bonds
one or more _____ ____.
Trans fatty acids are a risk factor
(Naturally occurring unsaturated
for ________.
fatty acids have the cis
Fluidity of cellular membranes
correlates _____
(inversely/directly) with melting Inversely
point of fatty acids in membrane
Increased cytosolic Ca2+ activates
Phospholipase A2
__________ which causes cell
membrane damage in tissue
Corticosteroids inactivate
phospholipase A2 thereby
decreasing release of arachidonic
What effect do corticosteroids
have in this process?
Lung surfactant
Respiratory distress syndrome is
associated with a deficiency of (decreases surface tension; often
_______. in deficient in premies and infants
of diabetic moms)
Hereditary defects in lysosomal
enzymes that degrade
sphingolipids (mainly found in
Sphingolipidoses (mechanism,
white matter of CNS).
Tay-Sachs disease, Gaucher's
Myelin sheath (all are
Where are sphingomyelins,
cerebrosides, and gangliosides
(sphingomyelins are also in blood)
Steroid hormones
Cholesterol is a precursor for what
Vitamin D (skin derived)
3 things?
Bile acids

Short range, short term signaling


3 types are made from

arachadonic acid:
Prostaglandins (cyclooxygenase)
Thromboxanes (cyclooxygenase)
Leukotrienes (lipoxygenase)

Effects (vary by tissue)

1) Promote acute inflammation
(increase vasodilation, inflam
2) Vasodilation of afferent arteriole,
vasoconstriction of cerebral
Derived from AA by which
3) Increase mucous barrier of
Major effects?
stomach (ulcers if too much
Inhibited by?
4) Decrease platelet aggregation
5) Uterine contraction

Inhibited by aspirin, NSAIDs


Thromboxane A2 1) Platelet aggregation

2) Vasoconstriction
Derived from AA by which 3) Bronchoconstriction
Major effects? Cyclooxygenase inhibited by
Inhibited by? aspirin (permanent inhibition of
production in platelets) and

1) Neutrophil chemotaxis and
Derived from AA by which
2) Bronchoconstriction
Major effects?
3) Vasoconstriction
Inhibited by?
4) Increase vascular permeability

Zileuton (inhibits lipoxygenase)

L isomer (D is found in bacterial
cell wall and some antibiotics)
Proteins are made of the L or D
isomer of amino acids? (Asymmetry of alpha-carbon gives
rise to these 2 optically active
Isoleucine, leucine, valine
Which 3 amino acids are increased
in maple syrup urine disease?
All are branched chain amino acids
What property do they have in
(hydrophobic aa's with nonpolar
side chains)

Which aa accumulates in
Phenylalanine accumulates;
phenylketonuria (PKU)? Which aa
tyrosine must be supplied
must be supplied?
Arginine and histidine
Which aa's stimulate growth
hormone and insulin?
(needed for growth in children)

Catecholamines, melanin, thyroid

Tyrosine is a precursor for what 3 hormones

What information would an ELISA It would tell you whether a certain

using a test antigen coupled to a antibody is present in the patient's
color-generating enzyme give you? blood

True or False: Enzyme-linked

immunosorbent assay tests True
antigen-antibody reactivity

What information would an ELISA It would tell you whether a certain

using a test antibody coupled to a antigen is present in the patient's
color-generating enzyme give you? blood

Identify the technique: A test

antigen that is labeled with a color-
generating enzyme can be used to
Enzyme-linked immunosorbent
determine the presence of a
assay (ELISA)
specific antibody. If the antibody is
present, the solution will have an
intense color reaction.
The FISH analysis allows
researchers to identify anomalies
What is the advantage of a FISH
at a molecular level, including
analysis over a karyotype?
deletions that are too small to see
on a karyotype
What laboratory technique is
represented with the acronym Fluorescent In Situ Hybridization

Basic aa's have a ______ (+/-)

Positive charge
charge at pH 7

Would lysine, arginine, or histidine Positive

have a positive or negative charge
at physiological pH? (these are basic aa's)

Would aspartate or glutamate have Negative

a positive or negative charge at
physiological pH? (these are acidic aa's)

pI is the isoelectric point (pH at

What is pI? which the amino acid has zero net
When pI>pH, the net charge on
the molecule is ___ (+/-) When pI>pH, the aa has a positive
net charge.
Hydroxylation of proline and lysine
is important to form _____. What
Vitamin C is needed for
cofactor is needed for this
hydroxylation (hydroxyproline and

Precursor amino acid for serotonin,

niacin, melatonin
Glycosylation of proteins (i.e.
hemoglobin and vessel basement
Diabetes mellitus
membranes) occurs in which

alpha-helix and beta-pleated sheet
are examples of ________
(primary structure determines
secondary and tertiary structures)
False, this is tertiary
T/F Quaternary structure is the 3-D
folded structure of a polypeptide (quaternary is the organization of
(native conformation) multiple polypeptide chains, i.e.
dimers, tetramers)
Leucine zippers and zinc fingers
are common supersecondary
DNA-binding proteins
structures found in _____-binding

Lactic acid accumulation (low pH

In tissue hypoxia, what leads to denatures proteins)
denaturation of enzyme and
coagulation necrosis? (Heavy metals denature stabilizing
bonds in proteins too)
In glucose-6-phosphate
dehydrogenase deficiency,
increased ________ in RBCs
leads to Hb denaturation.
Some enzymes need cofactors or
Coenzyme=nonprotein organic
coenzymes. Which one is a...
molecule (i.e. vitamin derivatives)
nonprotein organic molecule?
Cofactor=metal ion
metal ion?
Km=substrate concentration at
which reaction velocity is 1/2 Vmax
What is Km? What does a high Km
indicate about an enzymes affinity
High Km indicates low enzyme
for substrate?
affinity for substrate (takes more
substrate to reach certain velocity)
In a zero order enzyme catalyzed
reaction, velocity is _______ of [S]. Independent

In a first order reaction, velocity is Proportional

_______ to [S].
Km increases/decreases?
Increases (less enzyme affinity for
Competitive inhibition:
Vmax increases/decreases?
Km increases/decreases? Unchanged
Vmax increases/decreases?
Can increased substrate reverse
Can increased substrate reverse inhibition? Yes
Examples? Examples? Methotrexate (inhibits
dihydrofolate reductase), alcohol
(competes with methanol/ethylene
Non competitive inhibitors:
Km unchanged
Km increases/decreases? Vmax decreased
Vmax increases/decreases?
Can't be reversed with increased
Can be reversed by increased substrate

Heavy metals, aspirin, flurouracil,

and organophosphates are all irreversible
________ enzyme inhibitors
How would the following affect
AST and ALT levels in serum?
Viral hepatitis: ALT>AST
Alcoholic hepatitis: AST>ALT
Viral hepatitis
MI: AST only
Alcoholic hepatitis
Hbg is for O2 transport, Mbg is for
O2 storage

Hemoglobin vs. myoglobin Hbg in RBCs, Mbg in muscle

Function? Hbg has 4 heme groups, Mbg has

Location? 1
# heme groups?
Saturation at PO2 in tissues? Hbg has low sat in tissues, Mbg
Cooperative binding? has high sat (only release O2 if
tissues hypoxic)

Hbg yes, Mbg no

Paternal allele is deleted or
In Prader-Willi syndrome, the allele
mutated (chr15q partial deletion)
from which parent is
deleted/mutated? Which parent's
Maternal allele is imprinted
allele is imprinted?
(silenced) normally
Maternal allele is mutated/deleted
In Angelman syndrome, the allele
from which parent is
deleted/mutated? Which parent's
Paternal allele is imprinted
allele is imprinted?
(silenced) normally

What form of iron is normally found

Reduced form (Fe2+)
in RBCs and can bind O2?
Oxidized form (Fe3+); causes
cyanosis b/c can't bind O2 so O2
sat decreases (can cause other
What form of iron is found in symptoms like dyspnea and coma
methemoglobin? What does this at higher concentrations)
(Can be caused by chemicals, like
nitrates, or inherited conditions,
like G6PD deficiency)

Decrease it (methemoglobin can't

How do CO and methemoglobin
bind O2, hemo/myoglobin have
affect O2 saturation?
much greater affinity for CO)

How do you treat CO poisoning? 100% O2 or hyperbaric O2

Left shift indicates increased

affinity for O2 (promotes O2
What does a left shift in the O2
binding curve indicate about Hb
1) Methemoglobin
affinity for O2?
2) CO
3) HbF
What causes a left shift?
4) Decreased CADET (low pCO2,
low acid (alkalosis), low 2,3 DPG,
low temp)
Right shift indicates a decreased
Hb affinity for O2 (promotes
unloading O2)
What does a right shift in the O2
binding curve indicate about Hb 1) High pCO2
affinity for O2? 2) High acid (acidosis)
3) High 2,3 DPG
What causes a right shift? 4) Exercise
5) High temp


What is the major vehicle for

carrying CO2 in blood?

Diabetes mellitus ( >5%)

HbA1c (glycosylated HbA) is high
(indicates levels of blood glucose
in what disease?
for about last 120 days; marker for
long-term glycemic control)

Does HbF increase/decrease

sickling in patients with sickle cell Decrease

Patients with sickle cell trait are O2 tensions are low enough to
usually asymptomatic except in the induce sickling and renal damage
renal medulla. Why? (renal papillary necrosis)

Causes: nitrate compounds,

sulfonamides, aniline dyes
What causes acquired
(convert to Fe3+)
Treatment: IV methylene blue
How do you treat it?
(primary), vitamin C (ancillary);
help reduce Fe3+ to Fe2+
What aa is every third aa in
What is needed to hydroxylate
Vitamin C
lysine and proline to promote cross
What disease involves a defect in
Ehlers-Danlos syndrome
loose skin, hyper elastic skin,
aortic aneurysms, and colon
Osterogenesis imperfecta
Decreased synthesis of type 1 (autosomal dominant)
collagen, pathogenic fractures,
blue sclera (blue sclera=seeing choroidal
veins under the thin sclera)
Sex-linked dominant disorder
caused by defective type IV
collagen. Glomerulornephritis, Alport's syndrome
sensorineural hearing loss, ocular

Tensile strength of collagen

weakened due to lack of cross- Scurvy (vit D deficient)

T/F Cholesterol is found only in the

False, cholesterol is found in the
outer lipid monolayer of the
outer and inner monolayers
membrane lipid bilayer.
Do the following increase or
decrease membrane fluidity?
Do the following increase or
Long-chain saturated fatty acids:
decrease membrane fluidity?
Long-chain saturated fatty acids
Cis unsaturated fatty acids:
Cis unsaturated fatty acids
Higher temperatures
Cholesterol: Decrease

Higher temperatures: Increase

Requires transport protein? Yes
Works against gradient? No
Facilitated diffusion:
Coupled to ATP hydrolysis? No
Requires transport protein?
(Passive moves down
Works against gradient?
concentration gradient. If works
Coupled to ATP hydrolysis?
against a gradient, needs ATP
either directly or indirectly)
Requires transport protein? Yes
Primary active transport:
Works against gradient? Yes
Coupled to ATP hydrolysis? Yes
Requires transport protein?
(directly; indirect in secondary
Works against gradient?
active transport)
Coupled to ATP hydrolysis?
Powered by movement of
Powered by movement of
cotransported ion? No (true for
cotransported ion?
secondary active)
In tissue hypoxia, the decrease in
ATP production allows ____ to
Ca2+; no ATP means Ca-ATPase
come into the cell and activate
stops working and Ca can come in.
phospholipases & caspases
leading to irreversible cell damage.
Dysfunciton in exocrine glands
leading to high Na/Cl in sweat,
highly viscous obstructive mucous,
Cystic fibrosis
malabsorption, and recurrent
Pseudomonas aeruginosa
CFTR defect (CFTR is a Cl
respiratory infections.
ATPase pump)
Which disease?
What's the defect?
Cystine kidney stones (cystine has
hexagon shaped crystal in urine)
Autosomal recessive (messed up
carrier protein that mediates
Which disease?
resorption of dibasic amino acids
What's the inheritance?
like cystine)
Pellegra-like symptoms (diarrhea,
dermatitis, dementia); impaired
Hartnup's disease
absorption of tryptophan reduces
synthesis of niacin

Familial hypercholesterolemia Autosomal dominant

Lack low-density lipoprotein (LDL)
Inheritance? receptors
Lacking which receptor's function? At risk for early MI/stroke b/c
Susceptible to? premature atherosclerosis
Trimeric G proteins are in the
active state when bound to ____ (In the GTP bound state, the alpha
and an inactive state when bound subunit (G-alpha) either
to _____. stimulates/inhibits an effector

What effect does the G protein

Stimulates adenylate cyclase to
alpha subunit Gs have on its
increase cAMP
second messenger?
What effect does the G protein
Inhibits adenylate cyclase to
alpha subunit Gi have on its
decrease cAMP
second messenger?

What effect does the G protein

Stimulates phospholipase C to
alpha subunit Gq have on its
increase IP3 and DAG
second messenger?

The Gq subunit activates

IP3 stimulates release of Ca2+
phospholipase C, which activates
from the ER
PIP2 increasing IP3 and DAG.
DAG activates protein kinase C
What do IP3 and DAG do?

What happens when ligand binds

Autophosphorylation (activates)
receptor tyrosine kinase?

Steroid hormones bind to

receptors in the _____ and the
Cytosol; nucleus
hormone receptor complex moves
to the _______.

Nucleus (receptor has a hormone-

Tyroxine and retinoic acid have
binding domain and a DNA-binding
receptors in the _______.

Gs; resulting increase in cAMP in

Cholera permanently activates ___ intestinal mucosa causes a
(G protein alpha subunit) by secretory diarrhea with a loss of
catalyzing ADP ribosylation of the isotonic fluid
subunit. What symptom does this
cause? (enterotoxigenic E. coli toxin also
activates Gs)
Pertussis toxin permanently
inhibits ___ (G protein alpha Gi; resulting increase in cAMP
subunit) by catalyzing ADP increases mucous secretion in
ribosylation of the subunit. What respiratory tract (whooping cough)
symptom does this cause?
IgG autoantibody against TSH
receptors producing
Graves' disease
Type II hypersensitivity
What disease?
What type of hypersensitivity rxn?
If low GTPase activity, always
bound to GTP thus always active.
Ras oncogene encodes a mutant
Ras protein with very low GTPase (Ras is a type of G protein that
activity. How does this contribute functions in signaling pathway from
to increased cell proliferation? receptors like epidermal growth
factor and platelet-derived growth
factor receptor.)
Basal metabolic rate (~60% of
daily expenditure; determined
mostly by weight)
Energy consumption of individual
at rest
Daily energy expenditure= BMR +
thermic effect foods + physical
Where are the following found in
Amylase=saliva & pancreatic
the GI tract?
Lactase, sucrase,
maltase=intestinal brush border
(damage or loss of enzymes can
cause osmotic diarrhea)
1) increase intestinal motility/soften
2) decrease risk of colon cancer by
absorbing lithocholic acid
3) reduce absorption of
Functions of insoluble fiber
cholesterol, fat soluable vitamins

(Insoluable fiber has beta-1,4

glycosidic linkages which can't be
hydrolyzed by amylase)
# of double bonds in...
monounsaturated fat?
Linoleic (omega 6) & linolenic
(omega 3)

Essential fatty acids Functions: 1) maintain fluidity of

cellular membranes 2) make
What are they? arachidonic acid (from linoleic) 3)
Function? prevent platelet aggregation
Deficient? (linolenic)

Deficient: scaly dermatitis, poor

wound healing, hair loss
Tiny globule containing lipids that
are resorbed into intestinal
mucosal cells via passive diffusion
What's a micelle?
(contain 2-monoaclyglycerol + FFA
(triacylglycerol), phospholipids, vit
DAKE, free cholesterol)
Pancreatic lipase breaks it into 2-
monoaclyglycerol + FFA which
gets absorbed into mucosal cells in
How is triacylglycerol absorbed by a micelle. Reformed into
the gut? triacylglycerol in the nascent
chylomicron and goes into
lymphatics (major source of energy
to cells)

Pancreatic insufficiency
3 major categories for fat
Poor bile salt resorption/deficiency
malabsorption (steatorrhea)
Small bowel disease

Carbohydrates (salivary amylase

What would still be absorbed and disaccharidases in brush
normally in pancreatic border is enough)
Fat and protein malabsorbed

Micellarization of fats
Bile salt function
(lack causes steatorrhea)

1) Liver cirrhosis (can't make it

from cholesterol)
2) Terminal ileum
disease/removed (can't resorb)
Causes of bile salt deficiency
3) Excess binding of bile salts
4) Bacterial overgrowth (destroys
bile salts)
1) Diarrhea, anemia, malnutrition,
weight loss
Characteristic clinical findings in
2) Night blindness (vit A), rickets
(vit D), hemorrhagic diathesis, GI
bleeds (vit K)
Begins in stomach: pepsin (chief
cells), acid denatures (parietal

Pancreas: trypsin and other

What is needed to digest proteins?
Intestinal epithelial cells:

Uptake into portal circulation:

carrier protein requires ATP to
transport aa's from lumen to circ.
When amino acids are oxidized
their nitrogen atoms are fed into (excreted in urine; people in renal
the _____ cycle in the liver. failure should eat low protein diet
so make less urea)
Nitrogen balance= amount of
nitrogen (protein) consumed -
amount of nitrogen excreted
What's nitrogen balance? What
+ balance=new proteins being
would a positive nitrogen balance
made (i.e. pregnancy, growing,
indicate? Negative?
lactation, healing)

- balance=tissue protein
breakdown (i.e. burns)

Diet deficient in both proteins and
(total calorie deprivation)

Extreme muscle wasting, growth

retardation, usually during 1st year Marasmus
of life from total calorie deprivation
1) Pitting edema/ascites
2) Enlarged fatty liver (decreased
3) Anemia
Symptoms of Kwashiokor
4) Diarrhea (loss of brush border
5) Defects in cellular immunity
6) Less extreme muscle wasting

Diet deficient in protein but

adequate in calories (carbs)

Water soluble vitamins generally

function as ________ in enzymatic cofactors

p-ANCA Polyarteritis nodosa
Ulcerative colitis

c-ANCA Wegener's

Anti-double stranded DNA Systemic lupus erythematous

CREST Syndrome (calcinosis,
Raynaud's phenomenon,
esophageal motility syndrome,
Anticentromere sclerodactyly, telangiectasia)

Localized systemic sclerosis


Anti-DNA topoisomerase Diffuse systemic sclerosis

1) Energy metabolism (B1-3, B5,

2) Amino acid metabolism
4 categories of water soluble (pyriodoxine, pyridoxal,
vitamin function pyridoxamine (B6)
3) RBC/neural development
(folate, B12)
4) Collagen synthesis (vit C)
1) Wernike-Korsakoff
2) Peripheral neuropathy (dry
Deficiency of vitamin B1 (thiamine) beriberi)
3) Congestive cardiomyopathy
(wet beriberi)

Corneal neovascularization,
Deficiency of vitamin B2
glossitis, cheilosis, anglular

Pellagra (diarrhea, dermatitis,

Deficiency of B3 (niacin)
Sideroblastic anemia, peripheral
Deficiency of vit B6 (pyridoxine)
neuropathy, convulsions

Loss of ATP from dysfunction of

pyruvate and alpha-ketoglutarate
dehydrogenase reactions
Mechanism for clinical findings in
(normally gain 2 NADH)
thyamine (B1) deficiency
wet and dry beriberi (B1 used in
pyruvate dehydrogenase rxn)
Deficient in B1 (thiamine)

Can precipitate acute thiamine

Wernicke-Korsakoff syndrome
deficiency in alcoholics by giving
IV glucose (thiamine depleted by
pyruvate dehydrogenase reaction)
1) Diet deficient in niacin and
What can cause niacin (B3)
2) Tryptophan lost (Hartnup's dz.)
3) Typtophan used excessively
(carcinoid syndrome)
Cofactors in rxns to make ATP:
B1, B2, B3, B5, B7 (prime B's)
Deficiency in which water soluble
vitamins affect energy
(thiamine, riboflavin, niacin,
pantothenic acid, biotin
_________ is a water soluble
vitamin that is part of the citric acid
Riboflavin (B2)
cycle and the electron transport
NAD+ (rxns with this are catabolic,
i.e. glycolysis)
What are the 2 active forms of
NADP+ (anabolic, i.e. fatty acid
B6 (pyridoxine)
Isoniazid therapy can cause
deficiency of what vitamin? (Alcoholics and babies who drink
only goat's milk)
1) Removes methyl from N-
methyltetrahydrofolate to make
dTMP for DNA synthesis
-W/o it, megaloblastic anemia
(folate too)

2) Transfers methyl groups to

homocysteine to make methionine
-W/o it, high
Function of vit B12 (cobalamin)
homocysteine=thrombosis risk
(folate too)

3) Odd chain fatty acid metabolism

(cofactor to convert methylmalonyl
CoA to succinyl CoA)
-Accumulation of methylmalonyl
CoA converts to methylmalonic
acid=neurotoxic (not folate!)
1) Diet (pure vegan)
2) Pernicious anemia (need
intrinsic factor for absorption in
terminal ileum)
3) Chronic pancreatitis (need
What can cause B12 deficiency? pancreatic enzymes to cleave R
factor from saliva so IF can bind)
4) Terminal ileal disease (Crohn's,
5) Fish tapeworm
6) Bacterial overgrowth
1) Hemophilia A
2) Hemophilia B
3) Glucose-6-phosphate
dehydrogenase deficiency
Which enzymopathies (4) are X- 4) Lesch-Nyhan syndrome
linked recessive? (hypoxanthine-guanine

(usually enzymopathies are AR)

Random inactivation of one X
chromosome in women in each
somatic cell during
What's lyonization?
(Sometimes female carriers of X
linked diseases can have mild
symptoms if a large enough
proportion of the normal X has
been inactivated)
Condensed, drumstick-shaped
body of DNA seen in the periphery
What's a Barr body?
of nuclei in females; inactivated X
chromosome (lyonization)
1) Enzymes (PKU, galactossemia,
Which general types of mutations
are inherited in an autosomal
2) Transport proteins
recessive pattern?
(thalassemias, cystic fibrosis)
1) Structural proteins (hereditary
spherocytosis, osteogenesis
Which general types of mutations imperfecta, Marfan's)
are inherited in an autosomal 2) Developmental gene expression
dominant pattern? (achondroplaia)
3) Metabolic receptors (familial
DNA synthesis (tetrahyrofolate
receives a methylene group which
Functions of folate is then transfered by thymidylate
synthase to dUMP to make dTMP
for DNA synthesis)
Inhibits dihydrofolate reductase
(this enzyme usually converts FH2
How does methotrexate work?
to tetrahydrofolate (FH4) which is
needed for DNA synthesis)
1) methotrexate and trimethoprim
(both inhibit dihydrofolate
What substances can deplete
2) Alcohol and oral contraception
(blocks resorption in intestine)

1) No neuro deficits
How do you differentiate folate
2) Normal levels of methylmalonic
deficiency from B12 deficiency?

Where does biotin (B7) come

Bacterial synthesis in intestine
1) Hydroxylation of lysine and
proline during collagen synthesis
2) Reduces non-heme iron (Fe3+)
to ferrous state (Fe2+) for
resorption (deficiency can also
Vit C is needed for...
cause IDA!)
(5 things)
3) Cofactor in conversion of DA to
norepi in catecholamine synthesis
4) Kepps tetrahydrofolate in its
reduced form
5) Antioxidant
liver; adipose tissue
Fat soluable vitamins are stored in
(function as hormones, cofactors,
____ and ______.
hemostatic agents and

Beta carotenes (provitamin A)

Vitamin A (aka, retinol, retinal,
retinoic acid) is derived from
(too much beta can turn skin
yellow, but sclera white)

Vit A
Which vitamin is a component of
visual pigments in the rod?
(Def.=night blindness)

Night blindness (dry eyes, etc.)

Skin abnormalities (follicular
hyperkeratosis, dryness)
Vit A deficiency Lung abnormalities (bronchitis,
pneumonia, maybe cancer)
Growth retardation
Poor wound heal

Increased intracrainial pressure

Vit A excess (papilledema/convulsions); liver
tox; bone pain
Rickets (kids) osteomalacia
Vit D deficiency
(adults); hypocalcemia

Vit D excess Hypercalcemia (renal calculi)

Hemolytic anemia
Peripheral neuropathy
Posterior column degeneration
Vit E deficiency
(loss of vibratory, proprioception)
Retinal degen

Decreased synthesis of vit K

Vit E excess
dependent coagulation factors

Bleeding diathesis (GI,

Vit K deficiency
ecchymoses, prolonged PT)

Hemolytic anemia/jaundice in
Vit K excess newborn if mom has too much Vit
Endogenous: photoconversion of
7-dehydrocholesterol to vit D3

Exogenous absorbed in GI:

Plants=ergocalciferol (D2);
animals=cholecalciferol (D3)

1) D3 converted to 25-OH Vit D by

How is active vit D made?
25 hydroxylase in liver
2) 25-OH Vit D converted to 1,25-
OH Vit D by 1-alpha hydroxylase in
kidneys* (enhanced by PTH)

*macrophages can do this too so

people with sarcoidosis can get
1) GI: resorb Ca and phosphorous
2) Kidney: increase resorb Ca
3) Bone: interacts w/receptors on
osteoblasts (mobilize alkaline
phosphatase, less bone
What's vit D do?
w/PTH vit D can
1) increase mobilization of Ca from
bone (stimulates conversion of
macrophage stem cells to
2) Maintains serum Ca
Type 1: Deficiency of 1-alpha
Type 1 vs. type 2 vit D deficiency
Type 2: Deficiency of vit D
receptors on target tissues
Most common cause vit D Renal failure (no 1-alpha-
deficiency hydroxylase)

Scavenges free radicals to


Why is Vit E's antioxidant 1) oxidation of LDL (prevent

properties important? atherosclerosis)
2) oxidation of RBCs (prevent
hemolysis). Vit E protects
Gamma carboxylates them in the
liver so they can bind to Ca
What does vitamin K do to vit K (essential for clotting)
dependent coagulation factors?
Factors II, VII, IX, X, protein C & S
need this
Inhibits hepatic epoxide reductase
(reduces vit K to active form)
How does Coumadin work?
Factors II, VII, IX, X, protein C & S
need this

What do some newborns need to Vit K injections (lack bacteria in

prevent hemorrhagic disease of bowel and only have breast milk
newborn? which is poor in vit K)

Low serum H+ so H+ comes off

albumin exposing more sites for
How does an alkalotic state affect Ca to bind (less ionized Ca in
serum Ca? Symptoms? blood)

Tetany, etc.
Decrease total Ca w/o changing
How does hypoalbuminemia affect free ionized Ca.
serum Ca? Symptoms?
No symptoms
1) PTH: more resorb Ca in kidney;
release Ca from bone
2) Vitamin D: increases Ca resorb
How is Ca regulated (3)? in gut and kidney, mobilize Ca
from bone
3) Calcitonin (C cells in thyroid):
inhibits osteoclasts
PTH: binds osteoblasts to
stimulate osteoclasts (estrogen
inhibits this to prevent
What cells have receptors for PTH
and calcitonin?
Calcitonin: binds osteoclasts and
inhibits them
1) Hypoalbuminemia (most
common; asymptomatic)
2) Hypomagnesemia (most
common pathologic cause; need
Mg for PTH secretion)
3) Vit D deficient
Causes of hypocalcemia
4) Primary hypoparathyroidism

(tetany, Chvostek's sign,

carpopedal spasm, muscle
1) Malignancy
2) Primary hyperparathyroidism
3) Sarcoidosis (granuloma
Causes of hypercalcemia synthesis of vit D)

(stones, groans, bones, psychiatric

Addition of ______ (mineral) traps Phosphate
monosaccharides like glucose in
cells. (forms glucose-6 phosphate)

1) PTH increases release from

bone and increases excretion in
Control of phosphate kidneys
2) Vit D increase resorption from
small bowel

____ is needed for active transport

of glucose, galactose, and amino Na
acids in small intestine

1) Thiazide and loop diuretics

2) SIADH (resorb too much water
and dilute Na)
Causes of hyponatremia?
3) CHF/chronic liver disease:
dilutional effect from retention

Cerebral edema, convulsions

1) Osmotic diuretics: mannitol
concentrates Na by losing free
water; excess urea and glucosuria
can do the same
Causes of hypernatremia? 2) Diabetes insipidus (no ADH
Symptoms? activity)

Mental status changes;

convulsions (similar symptoms to
Hypokalemia inhibits insulin
secretion; hyperkalemia promotes
How does hypokalemia affect
insulin secretion?
(insulin makes K go into cells)
Heart rate slows; stops in diastole
Symptoms of hyperkalemia?
(give insulin to drive K into cells)

Mg is cofactor of adenylate cyclase

involved in activation of PTH
How does Mg affect Ca in serum?
(increases PTH synthesis and
release) so increases Ca in serum
1) Alcoholism (most common;
causes increased renal loss)
2) Diuretics and other drugs that
Causes of hypomagnesemia?
increase renal loss

Can cause hypocalcemia (tetany)

1) Renal failure
2) Treatment of eclampsia with
magnesium sulfate
Causes of hypermagnesemia?
Neuromuscular depression,
bradycardia (Mg needed for nerve
impulse propagation)
In the ferrous (Fe2+) state from
degraded heme. Most stored as
What form of iron is absorbed from apoferritin in enterocyte. Small
meat? Where does it go? amount is transfered to plasma
transferrin (circulatting binding
protein of iron)
Serum _____ would be low in iron
deficiency. (serum ferritin reflects iron stores
in bone marrow)
When iron stores in
bone/macrophages are decreased,
liver produces ____(more/less) more
transferrin then increasing
total iron binding capacity.
Newborn: bleeding Meckel's
Cause of iron deficiency in... diverticulum
Newborn? Child: bleeding Meckel's
Child? diverticulum; milk diet
Woman <50? Woman <50: Menorrhagia
Man <50? Man <50: Peptic ulcer dz.
Man/woman >50? Man/woman >50: Colon
1) Hemochromatosis
2) Hemosiderosis
Iron overload diseases? 3) Sideroblastic anemia (due to
pyridoxine def., lead poisoning,
Plummer-Vinson syndrome
(esophageal webs, glossitis, spoon
nails, achlorhydria) results from
deficiency in ____.
poor wound healing; loss of taste
and smell
Zinc deficiency
(also perioral rash, hypogonadism,
growth retardation)

Microcytic anemia (decreased

Copper deficiency ferroxidase activity); dissecting
aortic aneurysm
Defect of secreting copper in bile Wilson's disease

Low serum ceruloplasmin Wilson's dz.

Iodine deficiency Goiter

Muscle pain/weakness
Selenium deficiency
Needed to make glutathione

Fluoride deficiency Dental caries

Impaired glucose tolerance;

Chromium deficiency
peripheral neuropathy

______(+/-) free energy changes
(delta G) allow coupled reactions
i.e. in metabolism, ATP hydrolysis
to proceed spontaneously in a
is coupled to an energetically
forward direction.
unfavorable reaction