BASIC BIOCHEMISTRY Flashcards
1
Q
In methyonine cycle, homocysteine could be converted to two subjects. What are they, and what are the cofactors of each pathway?
A
- Methionine
- use B12 as main cofactor
- related with folate pathway, which use methyl, methylene THF - Cystathionine -> Cysteine
- B6
2
Q
Elevated levels of plasma homocysteine can cause what symptom?
A
Hyperhomocysteinemia is independently related to direct and indirect induction of endothelial damage leading to thrombotic events like venous thrombosis, ischemic stroke, coronary artery disease(patients may show these symptoms)
3
Q
Cobalamin is major cofactor of two metabolism. What is it, and what symptoms might it show?
A
- Methionine pathway
- transition of homocysteine to methionine
- thrombotic events like venous thrombosis, ischemic stroke, coronary artery disease - Odd-chain amino acid metabolism
- methylmalonic acid to succinyl -CoA
- impairs myelin synthesis leading to neuronal damage
- lethargy, seizures, paresthsias, hypotonia
4
Q
Serum cholesterol is normal under?
Serum cholesterol is high over?
A
200mg/dL
240mg/dL
5
Q
Serum glucose is normal under?
A
Fasting: 70-110mg/dL
Random & nonfasting: 140mg/dL
6
Q
What is the function of parathyroid hormone?
A
Increase blood Calcium concentration by increasing Ca absorption in intestines, and breaking bone Ca by osteoclasts
7
Q
Which pathway does insulin binds to it’s targeting cells?
A
By stimulating transmembrane receptors with tyrosine kinase activity
8
Q
Which hormones functions by activating JAK/STAT messenger system?
A
Erythropoietin(stimulates bone marrow to produces RBSs)
Growth hormone
Prolactin(made from pituitary gland, stimulating breast milk production)
9
Q
How does Calcium sensing receptors (CaSRs) regulate PTH?
A
CaSR are G-protein coupled receptor in the membrane of parathyroid cells and when it binds to Ca, it lowers blood PTH levels which lowers serum calciun levels.
10
Q
What are hormones that interact directly with intracellular receptors with DNA binding domain?
A
Steroid hormones
Thyroid hormones
Vitamin D
11
Q
What are the most abundant amino acids in collagen?
A
Glycine
12
Q
Why does collagen form triple helix?
A
It occurs due to repetitive amino acids within each alpha chain, in which glycine occupies every third position
13
Q
(Epithelial cell junctions)Tight junctions role and key components?
A
14
Q
What are roles and key components of Adherens junction in epithelial cell junctions?
A
15
Q
What are roles and key components of desmosome in epithelial cell junctions?
A
16
Q
What are roles and key components of hemidesmosome in epithelial cell junctions?
A
17
Q
What are roles and key components of Gap junctions in epithelial cell junctions?
A
18
Q
What disease can occur due to type II hypersensitivity in Desmosome / hemidesmosome?
A
Desmosome: pempigus vulgaris
Hemidesmosome: bullous pemphigoid
19
Q
What is Integrin and what can it be bound to?
A
Family of transmembrane protein receptors that interact with proteins including collagen, laminin, fibronectin in basement membrane
20
Q
What role does pyridoxine(B6) serve?
A
Necessary cofactor for transamination and decarboxylation of amino acids(ALT &AST)
21
Q
What is transamination?
A
Swifting amino group from one amino acid to other, by interacting with ketoacids.
22
Q
What are two major transamination reaction and their enzymes?
A
- ALT(alanine transaminase)
L-alanine + α-ketoglutarate ⇌ pyruvate + L-glutamate - AST(aspartate transaminase)
L-aspartate + α-ketoglutarate ⇌ oxaloacetate + L-glutamate
23
Q
What does Biotin do?
A
Biotin is vitamin B7, which is a cofactor of all carboxylase enzymes of our body.
1. Pyruvate carboxylase(gluconeogenesis)
2. Acetyl CoA carboxylase(fatty acid synthesis)
3. Propionyl CoA carboxylase(fatty acid oxidation and branched chain amino acid breakdown)
24
Q
What can cause biotin deficiency?
A
Consumption of large amount of avidin, a protein found in egg whites
25
What does folic acid do? And what could be seen in deficient patients
Folic acid is Vitamin B9, and is an important cofactor in nucleic acid synthesis.
Deficiency can cause megaloblastic anemia(either vit12 too)
26
What does niacin do? And deficiency cause what?
Niacin id vitamin B3, and it makes NAD &NADP which can be used in dehydrogenase reaction
Deficiency can cause Pellagra, which is classically associated with 4Ds.
Dermatitis, dementia, diarrhea, abd death
27
What does Riboflavin do
It is vitamin B2 and is used in dehydrogenase reaction involving the cofactors FMN and FAD
28
What does Thiamine do?
Thiamine is vitamin B2 and it serves as BAPT
1. Branched chain ketoacid dehydrogenase
2. @- ketoglutarate dehydrogenase(TCA)
3. Pyruvate dehydrogenase(links glycolysis to TCA)
4. Transketolase(HMP shunt)
29
In the time line of fasting, there are five hormone responsible for defense against hypoglycemia. What are they and when are they activated?
1. Early phase when blood glucose level fall from fasting
- suppression of Insulin secretion
- Glucagon stimulates hepatic glycogenolysis and gluconeogenesis
- Epinephrine further stimulates glycogenolysis and gluconeogenesis and increases the relase of gluconeogenic substrates from muscle and fat
2. Prolonged fasting
- cortisol bind to intracellular cortisol receptors which ten transports ti nucleus leading to increased transcription of gluconeogenic enzymes
- growth hormone acts via extracellular transmembrane receptor that activates JAK/STAT pathway. Antagonizing insulin action, increasing gluconeogenesis, and promotes lipolysis
30
Catecholamines and glucagon can attenuate hypoglycemia. Which messenger system does it get through to do such action?
Epinephrine and glucagon exert their action via extracellular transmembrane G protein coupled receptors thaN activate adenyl cyclase and increase cAMP
31
What is phosphatidylinositol 2nd messenger system?
1. G protein coupled receptor binds with Hormone
2. Activates phospholipase C
3. Forms IP3, which binds to nucleus receptor and secretes Ca+
4. Protein kinase C activation leading to physiologic effects
32
There are two types of G protein coupled messenger system we know. What are they?
1. Leading to Adenylate cyclase activation which also leads to formation of cAMP and activation of protein kinase A
2. Leading to phospholipase C activation which also leads to formation of IP3, increasing intracellular calcium concentration leading to protein kinase C activation
33
Examples of hormones using phosphatidylinositol 2nd messenger system?
@1 adrenergic, M1 and M3 cholinergic, vasopressin, histamine, oxytocin, angiotensin II, TRH, GnTH
34
What function does phosphodiesterase do?
Terminates the effect of ligands that act via cAMP or cGMP second messenger system.
35
What root products are produced during Catecholamine synthesis/tyrosine catabolism?
"Pure True Love Does Not Exist"
Phenylalanine
Tyrosine
L-DOPA
Dopamine
Norepinephrine
Epinephirne
36
What enzymes use tetrahydorbipterin(BH4) as essential cofactor?
1. Phenylalanine hydroxylase
2. Tyrosine hydroxylase
3. Trypophan hydroxylase
37
What amino acid derivatives can be seen with Tryptophan?
Niacin(B2, B6 as cofactor) and Serotonin(BH4, B6 as cofactor)
38
What results can happen in excess phenylalanine?
Phenylketonuria like symptoms
- irreversible neurological injury(microcephaly, developmental delay, seizures)
Phenylalanine is also competitive inhibitor of tyrosinase, enzyme essential to produce melanin, leading to hypopigmentation
39
What might happen when tyrosine hydroxylase is impaired?
Since tyrosine is used in catecholamine synthesis, it will cause progressive neurological findings(dystonia근긴장이상증, truncal hypotonia몸통근긴장저하중)
40
What might happen when tryptophan hydroxylase function is impaired
Conversion of tryptophan to serotonin is impaired leading to dysregulation of mood, appetite, sleep, and muscle contraction
41
What are pathogenesis and symptoms of Maple syrup urine disease? And what is there treatment?
"I Love Vermont maple syrup from maple trees B1 branches"
Px) impaired branched chain alpha ketoacid dehydrogenase(B1) resulting in blocked degradation of branched amino acids(isoleucine, leucine, valine)
Sx) vomiting, poor feeding, progressive neuronal decline leading to seizures
Tx) restriction of AA mentioned above and thiamine supplementation
42
What is the pathogenesis and symptom of Alkaptonuria?
Px) Occumulation of homogentisic acid due to deficiency of homogrntisate oxidase which turns homogentisic acid to Maleylacetoaceteic acid.
Sx) usually benign, hyperpigmentation of bluish black connective tissue. Ochonosis. Urine turns black on prolonged exposure to air. May have arthralgias(homogentisic acid are toxic to cartilages)
43
What type of collagen is made during collagen synthesis and where are they made from each?
1.rER
Preprocollagen(hydroxylation and glycosilation) -> Procollagen(triple helix formation)
2. Extracellular space
-> tropocollagen(cleavage of yerminals via procollagen peptidase) -> collagen(cross linkage by lysyl oxidase)
44
What became defect on Ehlers Danlos syndrome?
Procollagen peptidase which cleaves terminal region of procollagen outside extracellular matrix
45
What is the enzyme needed to form homocysteine to cystathionine, and what two cofactor is needed?
Cystathionine synthase is required and cofactors are B6 and Serine
46
What are metalloproteinases?
They are zinc containing enzymes responsible for degradading extracellular components like collagen, fibrinonectin, laminin.
They are essential for proper remodeling of wound healing
47
Pathogenesis and symptoms of I cell disease?
Px) defect of posttranslational modification, putting mannose residue to the formed protein which results them to move to lysosome. Its defect will cause proteins(lysosomal acid hydrolases) will there for excrete from cell membrane leading inclusion body formation inside cells.
Sx) coarse facial feature, clouded cornea, recurrent respiratory infection, developmental delay
48
What are the symptoms and treatment of phenylketonuria?
Sx) neuronal delay, hypopigmented skin, musty body odor
Tx) Restriction of phenylalanine and supplementation of tyrosine.
49
What are Px, Sx, Tx of Hartnup disease?
Px) inability to absorb neutral amino acid in gut anc kidney due to deformation of its transporters. Especially tryptophan gets defect
Sx) leads to Pellagra like symptoms(dermatitis after exposure to light etc), cerebellar ataxia
Tx) high protein diet and nicotinic acid supplementation
50
What does Tryptopan make?
Serotonine to Melatonin
Niacin to NAD+ & NADP+
51
What are major components in Urea cycle?
"Ordinarily, careless crapers are also frivolous about urination"
Ornithine
Carbamoyl phosphate
Citrulline
Aspartate
Argininosuccinate
Fumarate
Arginine
Urea
52
Glutamate and oxaloacetate together can form...?
Alpha ketoglutarate
Aspartate
Then aspartate can enter Urea cycle
53
What are roles of RAS protein and what messenger system does it use?
RAS Protein functions as cell proliferatiin signal.
Its function occurs with RAS/MAPK pathway when Growth factor hormone binds to tyrosine kinase receptor, Ras protein binds with GTP rather than GDP so as to be activated form.
Many tumors have gene mutation of this protein(which also has GTP hydrolase in itself) leading to uncontrolled proliferation.
54
What hormone use secondary messenger system which has Gs protein coupled receptor that mediates adenylyl cyclase which increase intracellular cAMP?
Parathyroid hormone
Glucagon
Ps. Catecholamine is true for using g protein but their active characteristic differs. Gs Gq .. etc. they can inhibit or enhance cAMP
55
What secondary messenger system does insulin use?
Insulin binds ti insulin like growth factor(IGF-1) and they activate tyrosine kinase activity.
56
What type of hormone work with DNA binding domain for their action?
Steroids(cortisol, aldosterone, progesterone)
- within cytoplasm and translocate to nucleus
Thyroid hormone
Fat soluble vitamin receptor
- locates within nucleus at all times
57
What diseases can occur due to impairment of proper ubiquitination in post-translational modification?
Parkinson disease
Alzheimer disease
58
What is difference between heterochromatin and euchromatin
Hetero has condensed DNA
Euchro has loosely arranged high level of transcriptional activity
59
What can happen after histone acetylation in chromosomes?
Promotes formation of euchromatin
60
What is the root component in urea cycle?
"Ordinarily careless crappers are also frivolous about urination"
Ornithine
Carbamoyl phosphate
Citrulline
Aspartate
Argininosuccinate
Fumarate
Arginine
Urea
61
What sign can we see in arginase deficiency patients?(lab, symptoms)
What is their treatment?
Elevated arginine on plasma
No or mild hyperammonemia
Spastic diplegia
Abnormal movements
Growth delay
Tx) low protein diet with synthetic protein made of essential amino acids
62
What lab results can we find in ornithine transcarbamylase deficiency or citrullinemia?
Excessive amount of orotic acid
Hyperammonemia
63
What is the difference between active transport and facilitated transport?
Active transport works against concentration degree and it requires energy
Facilitated transport requires transport protein but does not require energy and work with concentration degree
64
What is GLUT4?
Insulin sensitive transporter found in skeletal muscle and adipocytes
Under insulin circumstances they come to intercellular membrane and increase rate of glucose uptake
65
What is GLUT2?
It facilitates export of glucose from liver, small intestine, and kidneys into circulation
66
Between D-glucose and L-glucose, what dies glucose transporter protein prefer?
d-glucose
67
What do you know about carbamoyl phosphate synthetase I and N-acetylglutamate?
They are related to urea cycle
carbamoyl phosphate synthetase I directly makes carbamoyl synthetase while the latter is a promoter
68
What is the pathogenesis and major symptom of Hypoxanthine-guanine phosphoribosyltransferase deficiency(Lesch-Nyhan syndrome)?
Purines cannot be salvaged from degraded DNA resulting in hyperuricemia
Urate kidney stones and sel multilation
69
What ability is important for molecules around cell membrane to decide resting membrane potential?
Ions that are most permeable to the cell membrane
70
Where is Zinc finger located and what are their function?
They are inside nucleus and recognize specific DNA sequences and alter activity if target genes
71
What are examples that bind with zinc finger?
Thyroid hormone
Steroids
Fat soluble vitamins
72
In the case of metabolic compartmentation, which metabolism occur only in cytoplasm?
Glycolysis
HMP shunt
Synthesis of cholesterol
Synthesis of Protein
Synthesis of fatty acids
Synthesis of nucleotides
73
In the case of metabolic compartmentation, which metabolism occur only in mitochondria?
Fatty acid oxidation
Acetyl CoA production
TCA cycle
Oxidative phosphorylation
Ketogenesis
74
In the case of metabolic compartmentation, which metabolism occur both mitochondria and cytoplasm?
"Hug takes two"
Heme synthesis
Urea cycle(from ornithine to citrullin, citrullin exits mitochondria, ornithine after made from arginine, re enters to mitochondria
Gluconeogenesis(pyruvate carboxylase occurs in mitochondira)
75
What are the functions of free ribosome?
Translating proteins found within cytosol, nucleosol, perixisome matrix, and nuclear encoded mitochondrial proteins
76
What are the functions of attached ribosomes?
They synthesize secretory proteins, and integral membrane proteins of nucleus and cell membrane
77
What does smooth endopladmic reticulum do?
Site of steroid synthesis and detoxification of drugs and poisons.
78
What is the treatment of aldolase B deficiency?
Fructose and sucrose restriction
79
What lab and symptoms can we see from galactosemia?
Jaundice, vomiting, poor feeding, lethargy, , **hypoglycemia, hepatomegaly, infantile cataracts**, and galactose-1-phosphate acculation
80
Where does hydroxylation of proline and lysine residue in collagen occur?
Occurs in the rough endoplasmic reticulum
81
What are the main root of organic acidemia?
VOMIT
1. Valine, Odd chain ketoacid, Methionine, Isoleucine, Threonine
2. Propionate
3. Propionyl Coa
(Propionyl CoA carboxylase requires Biotin)
4. Methylmalonyl CoA
(Methylmalonyl CoA mutase requires cobalamin)
5. Succinyl CoA
6. Enters TCA
82
What are the symptoms and treatment of organic acidemia(propionic and methylmalonic)
Poor feeding. Vomiting. Hypotonia. High anion gap. Metabolic acidosis. Hepatomegaly. Seizures.
Low protein diet according to VOMIT
83
What are normal state of male and female hemoglobin?
Male: 13.5-17.5g/dL
Female: 12.0-16.0g/dL
84
What is average of mean corpuscular volume? And what does it imply to be low?
80-100fL
- size of RBC, its low state imply problem with hemoglobin production
85
What is Px, Sx, Tx of hereditary orotic aciduria?
Px) disorder of de novo pyrimidine synthesis which has defect in uridine 5' monophodphate(UMP) synthase which catalyze the final conversion of orotic acid to UMP.
Sx) developmental delay. Megaloblastic anemia. Elevated urinary orotic acid levels
Tx) Uridine supplementation can bypass this enzymatic defect and improve its symptoms
86
What enzyme is deficient in Pompe disease?
Acid-@1,4-glucosidase(acid maltase)
87
What are findings of pompe disease?
"Heart, liver, muscle"
**normal glucose level**
Cardiomyopathy
Hypotonia, exercise intolerance
Glycogen accumulation in lysosomes
88
What enzyme is deficient in von Gierke disease?
Glucose 6 phosphatase
89
What are the findings of von Gierke disease?
Hepatomegaly & Steatosis
Fasting hypoglycemia
Lactic acidosis
Hyperuricemia & hyperlipidemia
90
What enzyme is deficient in Cori disease?
Debranching enzymes
- @-1,6 glucosidase and 4@D glucotransferase
91
What are the findings of Cori disease?
Hepatomegaly
Ketotic hypoglycemia
Hypotonia & weakness
Normal lactate level
Abnormal glycogen with very short outer chains
92
What enzyme is deficient in McArdle disease?
Skeletal muscle glycogen phosphorylase(myophosphorylase)
93
What are the findings of McArdle disease?
Muscle phosphorylase deficiency
"Poor exercise tolerance with rhabdomyolysis(red urine) shortly after exercise"
Weakness & fatigue after exercise
No rise in blood lactate level after extercise
94
Why is skeletal muscle and heart susceptable to Pompe disease?
Because unreleased glycogen inside lysosome interfere with its contraction
95
What are core components of TCA cycle?
"Cytrate is Krebs starting substrate for making oxaloacetate"
Citrate
Isocitrate
@-ketoglutarate
Succinyl CoA
Succinate
Fumarate
Malate
Oxaloacetate
Citrate
96
In which step makes NADH during TCA cycle and what enzymes are associated?
1.Isocitrate->@KG
- Isocytrate dehydrogenase
2. @KG->Succinyl CoA
-@KG dehydrogenase
3. Malate->Oxaloacetate
X
97
In which step does TCA cycle form FADH2?
Succinate to Fumarate
98
In which step does GTP form during TCA cycle?
Succinyl CoA to Succinate
99
What does NADPH do?
Glutathione reduction inside RBCs
Farry acid and cholesterol biosynthesis
100
There are two steps on HMP shunt reaction. What are they and what is their main enzyme?
1. Oxidative(irreversible)
- Glucose 6 dehydrogenase
2. Nonoxudative(reversible)
- Transkelotase
101
During two steps of HMP Shunt, when does NADPH form?
During oxidative irriversible step, each step forms 2 NADPH
102
What are the functions of Nonoxidative reversible step of HMP Shunt?
Yields ribose for nucleotide synthesis
If there are sufficient Ribose 5 phosphate, it can turn to fructose 6 phosphate and re enter glycolysis
103
What are Px and Sx of glucose 6 phosphate dehydrogenase deficiency?
"Common X linked recessive disorder with hemolytic anemia after oxidative stress"
PPP is only way for RBC to aquire NADPH which is necessary to function as reducing glutathione. There for it becomes impossible for RBC to protect itself from oxidative damage like oxidizing agents(faba beans, sulfonamides, nitrofurantoin, primaquine) and Infection.
Sx) hemolytic anemia
104
Abundance of Energy leads to Fatty acid synthesis. Would you explain this sequence in regard of TCA cycle?
Abundance of ATP inhibits isocitrate dehydrogenase, leading to abundant citrate inside mitochondria. There are Citrate shuttle on mitochondria membrane, which can move citrate outside to cytoplasm, iniciating fatty acid synthesis
105
What are core component of fatty acid synthesis?
Citrate
--Citrate shuttle--mito mem
Acetyl CoA
(Acetyl CoA carboxylase
* upregulated by insulin
* down refulated by glucagon)
Malonyl CoA
To fatty acid synthesis
106
What are core component of fatty acid oxidation?
Fatty acid + CoA
Fatty acyl CoA
--Carnitine shuttle--mito mem
Acetyl CoA
Ketone bodies + TCA cycle
107
Somr substance is related to inhibition of fatty acid oxidation. What is it?
Malonyl CoA is responsible for down regulation of Carnitine acyltransferase, leading to degraded function of carnitine shuttle.
Since malonyl CoA is core component of fattt acid synthesis, This function helps newly formed fatty acid to not be degradated right after its synthesis.
108
During starvation, why abd where can ketone bodies used as energy source?
During starvation, oxaloacetate is depleted to form glucose.
In the other hand, Acetyl CoA can still be used, so ketone formation and energy usage could occur in cardiac tissue, brain, muscles. But RBC strickly use glucose.
109
What is mucopolysaccharidosis?
Lysosomal storage disease, unable to degrade GAG(Glycosaminoglycan) which functions as component of extracellular matrix of connective tissue.
110
What is deficient and accumulates in Hurler disease, what are their Sx)?
Difiecient in @-L-iduronidase
Accumulation of Heparan and dermatan sulfate
Sx) Corneal clouding, intellectual disability, coarse facial figure
Recurrent respiratory infection
Early death due to cardiac complecation is possible(heparan and dermatan can also accumulate in vessels)
111
What are Sx of hypercholesterolemia?
Cholesterol over 300ml/dL
Premature Coronary artery diaease
Tendon(achilles) xanthomas
Corneal arcus(gray ring around cornea)
112
What is the Px and Sx of Gaucher disease?
Px) Accumulation of glucocerebroside due to deficiency of Glucocerebrosidase
Sx) easy bruising due to thrombocytopenia, hepatosplenomegaly, severe bone pain, progressive neuronal degradation.
113
What is the Px and Sx of Niemann Pick disease?
Px) accumulation of Sphingomyelin due ti deficiency of Sphingomyelin
Sx) Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula
114
What are reference range of AST and ALT
AST: 12-38U/L
ALT: 10-40U/L
115
What are Px, Sx, Tx of MCAD deficiency?
Px) after prolonged starvation, ketone bodies are essential source for energy and it is made from fatty acid oxidation. During this metabolism, when acyl CoA dehydrogenase is deficient, it is called Medium chained acyl CoA dehydrogenase deficiency.
Sx) hypoketotic hypoglycemia(unable to detect acwtoacetate in blood)
Liver dysfunctuon
Seizures with sudden death.
Tx) avoid fasting and glucose supplementation when ill
116
What are three features of vital sign during Sepsis?
Tachycardia, tachypnea, hypotension
117
What is Px, Sx, Tx of GALT deficiency?
Px) Deficiency of Galactose-1-phosphate uridyl transferase. Leading to accumulation of galactose-1-phosphate.
Sx) "lethargy and vomiting soon after starting breastfeeding."
- Galactosemia
- Cataracts
- Liver dysfunction(transaminitis;AST,ALT, Hyperbillirubinemia, hypoglycemia)
- Renal failure
- Predisposed with E.coli sepsis
Tx) restricing milk to soy milk(sucrose which dont require GALT OR GAKL
118
What can occur due to galactitol accumulation?
Cataracts
119
Which components are transformed due to galactose-1-phosohate uridyltransterase?
Galactose 1 phosphate
To
Glucose 1 phosphate
120
What are Px, Sx, Tx of Hereditary fructose intolerance?
Px) Aldolase B deficiency leading to accumulation of fructose-1-phosphate(not transforming to glyceraldehyde, Dihydroxyacetone).
Accumulation of F1P inhibits gluconeogenesis, leading to severe hypoglycemia soon after intake of fructose and sucrose and sorbitol
Sx) Life threatening hypoglycemia showing lethargy, vomiting, sweating, dehydration after fructose, sucrose intake
Tx) strict diet without sucrose and fructose
121
Why and What can occur due to Thiamine deficiency
Reason: Malnutrition(alcohol overuse, gastric bypass
* Pyruvate dehydrogenase funtion and others decrease, leading to ATP depletion.
It will cause Lactose pathway causing Lactic acidosis.
Since acidosis directly and indirectly cause vadodilation(decrease of vadcular resistance), it can cause high output heart failure.
Thiamine deficiency can also cause demielination of peripheral neurons causing dry beriberi
Wernikle encephalopathy
- Confusion, Ophthalmoplegia, Nystagmus, Ataxia
Dry beriberi
- Polyneuropathy, Systemic muscle wasting
Wet beriberi
- High output cardiac failure
122
Pyruvate can turn into different substance via pyruvate carboxylase and pyruvate dehydrogenase. What would they make, what pathway does it lead to and what is the rate determining molecule?
Pyruvate dehydrogenase turns pyruvate to Acetyl CoA, leading to glycolysis
Pyruvate carboxylase turns pyruvate to oxaloacetate, leading to gluconeogenesis.
Avundance of Acetyl CoA refers to Abundant energy, stimulating Pyruvate carboxylase. Opposite occurs vice versa.
123
What is the reference range of Platelet?
150,000 to 400,000mm3
124
What is the reference range of Leukocyte?
4500 - 11000mm3
125
What is difference between rtPCR & PCR?
Reverse transcription PCR amplifies mRNA to make complementary cDNA, containing exons.(they cant amplify non coding genes like enhancer and promoter)
PCR denatures and amplifies DNAs.
126
What are four space? Cells that are highly active with PPP(Pentose phosphate pathway)?
1. Erythrocytes
- experience oxidative damage
2. Liver, Adrenal cortex
- related to reductive biosynthesis(fatty acid anc cholesterol and steroid synthesis)
3. Phagocytic cells
- respiratory burst via NADPH oxidase
127
T/F. NADPH can be used in ADP phosphorylation
F) NAPH is possible for that.
128
What is the rate limiting enzyme for Ketogenesis?
HMG CoA synthase
129
What is the Sx of primary carnithine deficiency?
Muscle weakness
Cardiomyopathy
Hypoketotic hypoglycemia
Elevated muscle triglycerides
130
What are signs of myopathy?
Elevated creatine kinase
Weakness
131
What enzyelme is required for turning oxaloacetate to phosphoenolpyruvate, and what energy is need for this to happen?
Phosphoenolpyruvate, GTP
132
What are essential amino acid? And how can they be devided?
"PVT TIM HLL"
Phenyalanine
Valine
Tryptophan
Threonine
Isoleucine
Methionine
Histidine
Leucine
Lysine
Glucogenic:
- Methionine, histidine, valine
(we met his sweet valentine)
Glucogenic/Ketogenic:
- Isoleucine, phenylalanine, theronine, tryptophan
Ketogenic:
Leucine, Iysine
133
What is Px, Sx, Tx of pyruvate dehydrogenase deficinecy?
Px) Since PHD turns pyruvate to Acetyl CoA linking Glycolysis with TCA cycle, its malfunction will cause accumulation of pyruvate, shunting metabolism to lactic acidosis.
Sx) Lactic acidosis and neurologic defects(seizures, hypotonia, growth delay etc)
Tx) imolementation of ketogenic diet, only eating ketogenic AA, which does not form pyruvate during metabolism.
134
What is the function of copper reduction test?
Finds reducing sugar like glucose, galactose, fructose, lactose, maltose
135
vonGierke disease and Cori disease seems to show similar symptoms. But there is one distinguishing matter. What is it?
vonGierke disease only involves liver while Cori disease is involved in other matters like muscle, showing hypotonia and weakness.
136
Cori disease show hepatomegaly, hypoglycemia, ketoacidosis. What are other key features?
Muscle involvement(hypotonia and weakness)
Hepatic fibrosis(un natural accumulation of abnormal glycogen)
137
Why does vonGierke disease only effect liver & kidney? And what are their key feature?
Because G6P is specifically in these tissues.
Hypoglycemia
Hyperlipidemia
Lactic acidosis
Hepatic steatosis
138
What is Px and Sx of pyruvate kinase deficiency?
Px) PK turns phosphoenolpyruvate to pyruvate. Unable to make energy through glycolysis
Sx) Chronic hemolytic anemia since erythrocytes exclusively earn their energy through glycolysis.
139
Why is Essential fructosuria asymptomatic?
Because there is alternative pathway which is to turn fructose to fructose-6-phosphate (not fructose-1-phosphate) by hexokinase, leading to glycolysis.
140
Along Southern, Northern, Western Drop, which test can be performed to see certain genes transcription activity?
Since Northern Drop uses sample of mRNA, it is most likely to figure out the transcription activity.
141
What are Px, Sx of Galactosemia?
Px) Deficiency of Galactokinase, resulting accumulation of galactose and galacitol
Sx) late presentation with normal growth, and isolated presentation of cataracts.
142
What is deficient in Fabry disease?
Alpha galactokinase A
143
What is present on Fabry disease?
*EARLY STATE
- Deposits on dermal capillaries, peripheral nerve, lens
Angiokeratoma
Neurological findings(numbness and tingling, burning pain in the hand and feet)
Cataracts
* LATE STATE
Kidney disfunctuon
Cardiomyopathy
144
What is deficient in Tay-Sachs disease and what are their presentation?
Deficient in Hexosaminase A, resulting in accumulation of GM2 ganglioside.
Presents with neurological degradation(loss of motor skills)
Cherry red spot on macula
145
What is Px, Sx of Niemann-Pick disease?
Px) deficiency of Sphingomyelinase leading to accumulation of Sphingomyelin.
Sx) hepatosplenomegaly
Motor neuropathy
Cherry red spot on macula
146
What is the presentation of Niacin deficient patient?
Pellagra: Diarrhea, Dementia, Photosensitivr Dermatitis
147
Prolonged alcohol usage leads to hypoglycemia what are biochemical reasons?
NADH is produced during Ethanol metabolism, leading to high ratio of NADH/NAD.
148
What is the biochemestric background for muscle damage when lactate dehydrogenase is depleted?
**In short period of Exercise**
- Still enough Oxygen, able to run oxidative phosphorylation.
- NADH formed from glycolysis and TCA cycle is then used to make ATP.
**Long period of time**
- Lack of oxygen, only glycolysis and TCA cycle is active, leading to depletion of NADs, naturally blocking TCA cycle.
- Lactate metabolism use NADH to make NAD, enabling glycolysis to make ATP.
Lack of function with lactate dehydrogenase fundamentally leads to blockage of glycolysis, leading to muscle damage.
149
What are key symptom of pyruvate kinase deficiency and pyruvate dehydrogenase deficiency?
Pyruvate kinase deficiency
- lack of transforming phosphoenolpyruvate to pyruvate
- No ATP formation from glycolysis "At all"
- Cells highly dependant on glycolysis ATP are severly damaged, which are erythrocytes that does not have mitochondria, leading to chronic hemolytic anemia.
Pyruvate dehydrogenase deficiency
- lack of transforming pyruvate to Acetyl CoA, shunting glycolysis to TCA cycle route.
- Cells highly dependant on TCA ATPs are effected, which are Brain cells. CAUSING neurologic degradation along with lactic acidosis.
