Questions To Redo From Practice Slides Flashcards
B12 deficiency is indicated by
High levels of methylmalomic acid and homocysteine
Folate deficiency is indicated by
High levels of of homocysteine
Homocysteine—-?—->cysteine
B6
What are and are NOT products of one-carbon receiver
Products: dTMP, serine, Purine, b12
NOT products: methylene
Bruising, poor wound healing and weak immune response indicates
Vitamin c deficiency
K2 source
Bacteria intestines
B6 source
Liver, fish, whole grains, nuts, legumes, eggs, yeast
B3 source
Liver, yeast, cereals, meat, legumes
B2 source
Liver
Copper deficiency leads to
Paleness
Decrease in the conversion of Fe2+ to Fe3+
What does Hypocalcemia lead to
Spontaneous, asynchronous, and involuntary contraction of skeletal muscle
What step of heme synthesis is B6 a cofactor of
Succinyl CoA + glycine —-B6 + ALA synthase—>ALA
Lead poisoning presents as
Fatigue, myalgia, clouded state, MICROCYTIC HYPOCHROMIC ANEMIA with BASOPHILIC STIPPLING of RBCs
What does lead poisoning cause an increase in
ALA - aminoluvulinic acid
How do you remember what ALAS1 and ALAS2 respond to and what they do
1 = “hehe” (Michael Jackson voice)
Means 1 responds to heme
1 is responsible for all tissues - think MJ is loved by allll
2= “ 2 eyyyyye” (deep voice)
Means 2 responds to Iron
2 is just for erythrocyte precursor
Increased CO2 would do what to the Hb graph
Shift it right
T from stabilized would do what to the Hb graph
Shift to the right
Decreasing pH would do what to the Hb graph
Shift it right
Increase in temperature would do what to Hb graph
Shift it right
It the Hb graph shifts to the right what should you think
Whatever is causing the shift is making it harder to uptake O2
Aka
Hb affinity for O2 has decreased
Deletion of 4 α chains
Barts syndrome
Deletion of 3 α chains
HbH
Aka
Hemoglobin H disease
What will the liver and the heart be doing in response to epinephrine
Liver will decrease glycolysis
Heart will INCREASE glycolysis
Why does cushings disease present as thin appendages and a big belly
Excess cortisol —> increase lipolysis to mobilize fats from the extremities and deposit them in the liver
GLUT4 is found ____ and is ____
Muscle and adipose tissue
Insulin dependent
Allosteric activator for PFK1
Fructose 2,6 bi-phosphate
And
AMP
What are the cofactors for PDH
B1 ( as TPP )
B2
B3
B5
LIPOIC acid
PDH is NOT regulated by ____ instead its _____
Regulated by insulin or glucagon
Instead its covlaently regulated by phosphorylation and Dephosphorylation g
What conditions will PDH operate under
AEROBIC ONLY
Bc PDH is the first step to make the TCA cycle go. The point of the TCA cycle is to produce NADH and FADH2 for the ETC. Since the ETC only works under aerobic conditions, the TCA follows in suit.
Does PPP require energy?
Yuh
Which ETC complex will be inhibited by an individual with a B2 deficiency
Complex 1
Which ETC complex will be inhibited by an individual with a malonate deficiency
Complex 2
Which ETC complex will be inhibited by an individual with a Fe deficiency
Complex 3
Think “free” like a toddler saying iron(Fe)
Which ETC complex will be inhibited by an individual with a Fe and Cu deficiency
Complex IV
Cyanide and carbon monoxide effect what ETC complex
IV
2,4 DNP effects
Overall: disrupts ETC proton gradient so that H= leaves the inter membrane space without generating any ATP
SO: you’re O2 consumption will be the same but ATP production will decrease.
It does this by:
In the inter membrane space DNP is protonated.
It can cross the inner membrane to the matrix.
Then in the matrix is drops of the H+ leaving DNP deprotonated.
If you don’t get O2 you can’t ____ which results in____
Undergo oxidative phosphorylation
ADP build up
Overall effects of TCA cycle in anaerobic conditions
Slows down
Less CO2 and NADH/FADH2 made
What is the first step of glycogen sythesis
Attachment of a glucose residue to the OH- group on Tyr-194 of glycogenin
Glycogenic is the protein responsible for kickstarting this step
Insulin (fed state) tends to ____
DEPHOSPHORYLATE
Glucagon/epinephrine (unfed/fasted state) tends to ____
PHOSPHORYLATE
How does Anderson disease present
Hepatosplenomegaly, cirrhosis, hypotonia, muscle weakness
What’s deficient in Andersen disease
Branching enzyme
What induces fructose 1,6 bisphosphatase and what path is this enzyme apart of
High glucagon
Saturated vs unsaturated FA
Sat= NO double bonds
Unsat= double bond ( think of my U, I I trick)
Path of ω3 fatty acids
Alpha linolenic acid —> eicosapentanoic —> docosahexaenoic —> anti-inflammatory
bile salt synthesis pathway story
Chloe “C7H” changed her name to Cloé A
She likes Tar and Gly
They got conjugated
So now they’re Bull Shit
What percent of bile is secreted and what percent is recycled
Secreted = 5% receyled = 95%
If there is a G6PD deficiency, the PPP will
Not be producing NADPH
Fatty acid synthase response to G6PD deficiency
FA synthase will decrease
Bc it needs NADPH and since the PPP is not making it, then FA synthase can’t work
To make FA you need
NADPH
To degrade FA you need
FAD and NAD+
Malate —-?—-> pyruvate
Malic enzyme
It makes NADPH
HMG CoA Reductase active for vs inactive form
What pathway is it in
Active = de phosphorylated
Inactive = phosphorylated
Cholesterol
β oxidation forms
1 Acetyl CoA
1 NADH
1 FADH2
14 carbon acyl CoA - this is 2 carbons shorter than the original
Tangier Diesease effects ____ which in turn effects _____
HDL
VLDL and chylomicrons because the HDL cannot pass on C-11 and APO-E
Hartnup disorder presentation
Lack of neutral AA - this includes tyrptophan
Tyrptophan def = Pellagra - 3Ds diarrhea, dermatitis, dementia
Think “hard up” - if someone is hard up they’re NOT neutral. They’re super excited. So they’re lacking neutral
Histidine—-?—->hisamine
PLP - vitamin B6
If ATP is low glutamate dehydrogenase makes what
α keto glutarate
What does OTC Ornithine transcarbomolyase deficiency lead to and why
Increased orotic acid and increased NH4+
Bc carbomoyl phosphate starts leaking to the cytoplasm making orotic acid
HGPRT stands for
Hypoxanthine guanine phosphoribosyltransferase
How does lesch nyhan syndrome present
-gout, self mutilation, intellectual disability, disordered movement
-deficiency in HGPRT
-loss of purine salvage
-loss of purine salvage causes increases folate and/or B12 which leads to megaloblastic anemia. Which looks like hypersegmented neutrophils
how would you treat dominant gain of function mutations
RNA interference where siRNA binds to mRNA and CRISPR/Cas9
When siRNA binds to mRNA mRNA is degraded
What can adenoviruses cause
Massive immune responses
To stop an alcoholic from drinking again you give them a drug that will
Inhibits ALDH(acetaldehyde dehydrogenase) which leads to an accumulation of acetaldehyde which results in hangover effects
What does insulin do in skeletal muscle and adipose cells
De phosphorylates enzymes in pyruvate oxidation, lipolysis, glycogen synthesis, and glycogenolysis
Adiponectin is _____ related to body fat
Inversely proportional
When does the brain exclusively use ketone bodies as fuel
After 2-3 weeks of starvation
After 4-5 days without food what would the liver be doing
Making glucose from AA
What is the fate of even chain FA
Get metabolized to acetyl CoA and then go through the TCA to be made into ATP
NADPH makes
Fatty acids!
B12 deficiency presentation
Megaloblastic anemia
Glossitis
Motor and sensory anesthesia
B6 deficiency causes
Alcoholic related deficiency
TB drug caused deficiency
-peripheral neuropathy
-stomatitis
-glossitis
-irritability
-psychiatric symptoms
-epileptic seizures
-Sideroblastic anemia
Stationary and is a scavenger of free radicals
Vitamin E
Too many raw egg whites cause a deficiency in this and what is it normally used for
Biotin
Protein purification
Wilson disease
ATP7B gene mutation
Copper overload
Rings around cornea - key set fleisher rings
Crigler Najjar syndrome
Increased unconjugated indirect hyperbilirubinemia due to DEFICIENCY of bilirubin glucuronyl transferase
Type 1 = totally deficient
Type 2 = less severe
Think “C”rigler, “D”efficiency- C is next to D in the alphabet
Gilbert syndrome
Increased unconjugagted indirect hyperbilirubinemia due to mutation of glucuronyl transferase
PCT - porphyria cutaneous tarda presentation
Chronic blistering
Tea colored urine
Elevation of transaminases
PCT porphyria cutanea tarda mechanism
Deficiency in uroporphyrinogen decarboxylase (UROD -located in cytosol) which causes uroporphyrin accumulation
If you block the ALA synthase step what builds and where
Succinyl CoA and glycine
Methemoglobinemia (with auto recessive inheritance) mech and presentation
NADH cytochrome b5 reductase mutation
Chocolate blood
Methemoglobinemia with auto dom mutation called __ where is it
Hemoglobin M
Heme binding pocket
Balanced polymorphism happens where. Define it
Sickle cell trait
When someone is heterozygous for sickle cell.
Usually have no symptoms
Bonus it is selectively advantageous against malaria. THIS SPECIFICALLY IS CALLED - balanced polymorphism
What indicates endogenous insulin production
C peptide
GLUT4 does what in relation to glucose
It translocates to the cell membrane (muscle cell and adipose cell)
This can be triggered by exercise
The more GLUT4 on the cell acting as a receptor for glucose the less glucose in the blood
A competetive inhibitor___
Raises the apparent Km for the substrate without changing the maximum rate
Allosteric enzymes do not
Follow MM kinetics
Where is glucokinase inducible
Liver and pancreas
If you mess with PPP pathway what will in turn be messed up
FATTY ACID synthesis!!!!!
Cuz PPP makes NADPH
And NADPH is required for FA synthesis
NADPH is used for
FA synthesis
And
Redox reactions involving glutathione
What is wernicke Kordakis caused by
B1 deficiency
B1 is a cofactor for what enzymes
Transketolase - moves 2c units in the PPP
Phyruvate dehydrogenase - converts pyruvate to acetyl CoA
Alpha ketogluturate dehydrogenase - generates NADH during the TCA for ETC
Branched chain AA Dehydrogenase - AA catabolism
Pellegra is from ____ and presents as ___
Niacin B3 deficiency
Diarrhea, dermatitis, dementia
Niacin helps make
NAD
And the reverse NADP
Cori’s disease presentation
Fasting hypoglycemia, hepatomegaly, hypotonia, elevated creatinine kinase
Slide 91 in final review????
Propionate to glucose path utilizes what vitamins
Biotin AND B12
Which FA is essential for brain and eye development and is added to baby formula
Docosahexaeonic - ω3
Butyric is ___ that causes ___ and is found in
Saturated FA
Growth arrest and apoptosis
Butter fat
Myristic is ___ that causes ___ and is found in
Saturated FA
Rise in cholesterol
Palm kernel oil, nutmeg oil
High yield unsat. FA
LA and LLAMA story.
Say it out loud for practice
Acetyl CoA —?—>malonyl CoA
Acetyl CoA carboxylase
Biotin
B5 Pantothenic acid
Carnitine is inhibited by
Malonyl CoA
What process is malonyl CoA apart of
FA synthesis
Acetly CoA —Acetyl CoA carboxylase—>
malonyl CoA + acetyl CoA—-FAsynthse/NADPH—->
palmitate
No food for 8 days, what are FA used for and what are triglycerides used for
FA - To make ketones!
Glycerol from the triglycerides provide live with carbon skeleton to make glucose
Triglycerides provide ____ to the liver to use it as ____ to make ____
Glycerol
Carbon Skelton
Sugar
5FU blocks
DTMP production
Uric acid is the end product of
Purine degradation
What path is fructose 2,6 bisphosphate in
Glycolysis
PPP oxidative rxns
Are they reversible
G6P—G6PDH—> 6 phosphogluconate
6 phosphogluconate —-6PGD—> ribulose 5 phosphate
G6PDH stands for glucose 6 phosphate dehydrogenase and this step makes NADPH
6PGD stands for 6 phosphogluconate dehydrogenase and this step makes NADPH
NOT reversible
PPP non oxidative rxns
Are they reversible
Transketolase (c2 unit) which is thiamine dependent
Transaldolase (c3 unit)
Yes it’s reversible
End products are 2 G3Ps, F6P
Cholesterol phase 1 rxn
Acetyl CoA + acetyl CoA —HMG CoA synthase—>
HMG CoA —HMG CoA reductase+NADPH—>
Mevalonate
Purine salvage
Adenine — APRT —> AMP
Hypoxanthine — HGPRT —> IMP
Guanine —HGPRT —> GMP
Aminotranserase aspartate
Aspartate + αΚG —PLP B6——> OAA +glutamate
Asp gives NH3+ to glutamate
aminotransferase Alanine
Alanine + αΚG ——PLP B6——> pyruvate +glutamate
Alanine gives NH3+ to glutamate
Alanine can make
Pyruvate
Aspartate can make
OAA
Glutamate can make
AKG
Glutamate —-?—-> aKG
Glutamate dehydrogenase
NADP+—->NADPH
Sources of NADPH
1- glutamate -glutamate dehydrogenase-> aKG
2- G6P -G6PDH-> 6PG -6PGD-> ribulose
3-malate —malic enzyme —> pyruvate
IREs in 5’ UTR
Ferritin, ALAS2
____ translation of IRE in 5’ UTR when iron is low
Decreased
IREs in 3’ UTR
Transferrin receptor and DMT1
Transferrin receptor and DMT1 mRNAs are ____ when Iron levels are high.
Therefore. They’ll be ___when iron levels are low. This ____ helps bring ____
Unstable
Stable
Increased, more iron in
-ΔG substrate to product ratio
Keq =
___ of energy
Product>substrate
Keq>1
Loss of energy
Methotrexate inhibits
DHF
So dTMP cannot form
Purine degradation leads to
Uric acid formation
No energy is made
Key in prolonged fasting
Muscles decrease their use of KB. The brain starts to use a lot of KB
Normal serum albumin levels
High levels of blood ammonia - muscle wasting
Low Creatinine height index
Marasmus
Chronic kidney disease
Cachexia pt
Wacky BUN indicates
Wacky kidney
Anorexia pt have
Hypoalbuminemia
Total caloric insufficiency
Marasmus
Protein deprivation
Kwashiorkor
Unconjucated present?
Can’t transport conjugated?
Lowered expression of bilirubin glucuronyl transferase
Crigler - “d”ef, unconjucated. can’t die uncut
Dubin - dubin is a con for metals, rubies, pears (MRP2)
Gilbert- the gilberts are common(common disease) but have lowered expression since BGT (big god took) their dad
