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Biochemistry Final > Chapter 1 > Flashcards

Chapter 1 Flashcards

To study for the Medical Biochemistry SHELF exam. (96 cards)

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1
Q

What does Isoniazid do?

A

Isoniazid combines chemically with pyridoxal, which results in the production of an inactive hydrazone derivative. In breast milk, isoniazid can achieve levels that are high enough to cause a vitamin B6 (pyridoxine) deficiency in the infant unless the mother is treated with vitamin B6 supplements

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2
Q

What enzyme is most active after a 24 hour fast?

A

Carbamoyl phosphate synthetase I

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3
Q

When is PFK-1 most active?

A

In the well-fed state

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4
Q

What is the importance of Vitamin C? What happens when there is a deficiency?

A

Vitamin C, as well as molecular oxygen and α-ketoglutarate, are the requirements for the proper function of prolyl hydroxylase, the enzyme responsible for hydroxylation of the proline side-chains in collagen. Collagen lacking such side-chain hydroxyl groups cannot be stabilized by interchain hydroxyl groups (cross-linkages between tropocollagen)

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5
Q

What are the symptoms of scurvy?

A

bleeding gums after brushing her teeth and pain in her legs when she walks.pinpoint areas of hemorrhage around the hair follicles, a smooth red tongue, gingivitis, dental caries, and ecchymoses scattered over the trunk

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6
Q

Where does the cleavage of the N- and C-terminal propeptides in collagen occur?

A

In the extracellular matrix.

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7
Q

Where does the triple helix assembly of procollagen occur?

A

This spontaneous process, which occurs in the Golgi apparatus, yields a procollagen molecule and does not require vitamin C

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8
Q

What are the symptoms of Glucose-6-phosphatase deficiency?

A

Deficiency of glucose-6-phosphatase leads to type I glycogen storage disease (von Gierke’s disease). Key features of this condition include a massively enlarged liver (although usually without cirrhosis), severe hypoglycemia, and failure to thrive. Glycogen accumulates in the liver and kidney (hepatorenomegaly)

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9
Q

What happens when there is a Glucosyl (4:6) transferase deficiency?

A

This child is exhibiting symptoms of type IV glycogen storage disease known as Andersen disease, a condition related to a deficiency of the glycogen branching enzyme glucosyl (4:6) transferase. This classically causes cirrhosis of the liver or cardiac tissue damage, usually with death occurring within the first one or two years of life. ALSO urine is negative for reducing substances. There are FEW long chains and VERY FEW branches.

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10
Q

The genes for two different proteins from a mammalian cell culture are overexpressed and the cDNAs of the two proteins are inserted into vectors that are then used to transfect human fibroblasts. What technique would be used to confirm that the transfections worked and the proteins were produced?

A

Western Blot

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11
Q

What does restriction mapping do?

A

Restriction maps allow for the detection of deletions or other rearrangements in a gene and not whether the cloned DNA was expressed

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12
Q

What does DNA sequencing do?

A

DNA sequencing shows only the sequence of a particular fragment of DNA and not whether the cloned DNA was expressed

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13
Q

A 42-year-old woman is being treated with aspirin and corticosteroids for systemic lupus erythematosus. Which of the following biochemical processes most likely is being inhibited by these drugs?

A

Prostaglandin formation

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14
Q

What inhibits the release of arachodonic acid?

A

Only corticosteroids block phospholipase A2, the enzyme that releases arachidonic acid from the cell membrane

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15
Q

What does thromboxane synthase do?

A

Neither corticosteroids nor aspirin blocks thromboxane synthase, which is located in platelets. This enzyme converts prostaglandin H2 into thromboxane A2, which is a vasoconstrictor and platelet aggregator.

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16
Q

What does PVT TIM HALL stand for?

A

Phenylalanine, Valine, Tryptophan, Threonine, Isoleucine, Methionine, Histidine, Leucine, Lysine

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17
Q

What are the Glucogenic amino acids?

A

Alanine, Glutamate, Aspartate

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18
Q

What are the Ketogenic amino acids?

A

Leu, Lys

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19
Q

What amino acids are glucogenic and ketogenic?

A

Ile, Trp, Phe

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20
Q

Why would you have increased blood and liver concentrations of VLDL in an alcoholic?

A

Ethanol is metabolized in the liver and eventually forms acetate, with NADH as another major product. Chronic consumption of ethanol causes a shift in the cytosolic balance between NAD+ and NADH in favor of NADH. The altered NAD+/NADH ratio causes less effective operation of the citric acid cycle, halts efficient oxidation of fatty acids, and causes a shift from dihydroxyacetone phosphate to glyceraldehyde 3-phosphate and eventually to glycerol 3-phosphate, the substrate for synthesizing triacylglycerol. The abundance of glycerol and free fatty acids results in an increased production of triacylglycerol, with increased export from the liver as VLDL, and fatty liver. These conditions are often seen in chronic alcoholics

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21
Q

What are the vitamin deficiencies in an alcoholic?

A

Vitamin B3/Niacin, B1/Thiamine/TPP, B2/riboflavin/FAD/FMN, B6/PLP, B12/Cobalamin, Vitamin A/ beta-carotene, Vitamin D, Vitamin E. Wernicke/Korsakoff Syndrome of B1/Thiamine.

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22
Q

What is another name for vitamin E?

A

Tocopherol.

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23
Q

Which of the following mechanisms best explains how phototherapy reduces the jaundice in this patient?

A

Oxidizes bilirubin to a water-soluble form

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24
Q

Explain the process of conversion of bilirubin to biliverdin.

A

Biliverdin, which is more water-soluble than bilirubin, is converted to bilirubin in macrophages before it is conjugated in the liver. Conversion of biliverdin to bilirubin is an energy-requiring reaction and is not reversed by phototherapy

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25
An experiment is designed to determine how a specific protein functions in neuronal development. Which method will best determine how abundant the specific transcript for this protein is during different stages of development?
Northern Blot.
26
What is PCR good for?
Either the PCR technique or cloning can be used to amplify defined segments of DNA in vitro; however, a very limited amount of DNA can be amplified by PCR. The PCR technique is used in forensic medicine and prenatal diagnosis. Other applications of PCR include direct cloning, in vitro mutagenesis and engineering of DNA, and direct nucleotide sequencing of genomic DNA and cDNA
27
Which amino acid is most responsible for acidification of the urine?
Glutamine carries ammonia in the blood in a nontoxic state. In the proximal tubule of the kidneys, glutamine is converted by glutaminase to glutamate and ammonia, which eventually combines with protons in the collecting tubules to form NH4Cl. This process is the primary mechanism for the excretion of excess protons that leads to acidification of urine. Individuals who eat animal protein generate increased amounts of organic acids, which leads to excretion of more protons in the urine than would be excreted in the urine of pure vegans
28
What is present in ABUNDANCE in proteinuria?
This patient has symptoms of multiple myeloma, a proliferative disease that produces an abundance of ANTIBODY LIGHT CHAINS called Bence Jones proteins
29
Why would you get myoglobin in the blood?
Myoglobinuria can accompany muscle pain and weakness due to rhabdomyolysis (breakdown of muscle fibers and subsequent release of myoglobin)
30
A 28-year-old man has a family history of a disabling disorder that has caused the deaths of his father, grandfather, and two paternal aunts. The father and aunts died at a younger age than the grandfather, and it appears that the condition progressively worsens with each generation. What most likely is the disorder?
Huntington's Disease.
31
A 4-year-old boy has a history of recurrent bacterial and fungal infections. Blood analysis shows that he has an undetectable gamma globulin fraction and increased concentrations of dATP in his white blood cells. What is the most likely diagnosis?
Adenosine deaminase deficiency.
32
What enzyme is deficient in Lesch-Nyhan syndrome?
Lesch-Nyhan syndrome results from a genetic deficiency in hypoxanthine-guanine phosphoribosyltransferase, leading to an alteration in nucleotide concentration but not to dATP accumulation
33
An 8-year-old boy is brought to the emergency department because of vomiting and convulsions. His urine has a fruity odor and is found to contain an elevated level of ketone bodies. Neurologic studies show central nervous system defects. Despite intensive treatment, the boy dies after several days. The disease most likely resulted from a deficiency of what enzyme?
Branched chain alpha keto acid dehydrogenase complex.
34
Deficiency of branched chain alpha keto acid dehydrogenase complex causes what disease?
Maple-syurp urine disease.
35
What happens in cystathionine synthase deficiency?
A deficiency of cystathionine synthase impairs the catabolism of methionine and causes homocystinuria.
36
What is deficient in Alkaptonuria?
A deficiency of homogentisic acid oxidase (homogentisate 1,2-dioxygenase) impairs the catabolism of tyrosine and causes alkaptonuria.
37
A radionuclide scan of the parathyroid glands shows a well-circumscribed mass in the right inferior parathyroid gland. Which of the following areas on the graph represents the most likely concentrations of parathyroid hormone (PTH) and calcium in this patient?
High PTH and High Ca+
38
What happens when there is a tumor on the parathyroid gland?
The patient has primary hyperparathyroidism resulting from a functioning parathyroid adenoma in the right inferior parathyroid gland. Recurrent [renal] calculi are the most common symptomatic presentation of this condition
39
What lipoproteins are on HDL?
Lipo-A (alpha), Lipo C-II, Lipo E
40
What lipoproteins are on LDL?
Lipo B-100
41
What lipoproteins are on VLDL?
Lipo B-100, Lipo C-II, Lipo E
42
What lipoproteins are on Chylomicrons?
Lipo B-48, Lipo E, Lipo C-II,
43
A 42-year-old man is evaluated because of a 3-week history of tingling and weakness in the legs and feet. The patient is a strict vegetarian. Which of the following is the most likely explanation for the patient’s symptoms?
Accumulation of abnormal fatty acids because of a B-12 deficiency.
44
How are B-12 and folate derivatives related?
Vitamin B12 deficiency also causes megaloblastic anemia, which is explained by the methyl folate trap hypothesis. According to this hypothesis, in vitamin B12 deficiency, the methyl form of tetrahydrofolate accumulates, whereas other forms of tetrahydrofolate decrease. Therefore, deficiency of functional folate, which is necessary for nucleotide synthesis, leads to megaloblastic anemia
45
What is intrinsic factor necessary for and which cells make it?
Intrinsic factor, which is necessary for vitamin B12 absorption, is secreted by gastric chief cells.
46
Adenosine deaminase deficiency also occurs in what disease?
One of the causes of severe combined immunodeficiency disease (SCID) is a deficiency of the enzyme adenosine deaminase. SCID is characterized by decreased production of both B- and T-cell precursors resulting from the toxic effect of an increase in adenine within lymphocytes
47
Why do you get orotic acuduria?
Orotate phosphoribosyl transferase deficiency produces orotic aciduria. Orotic acid is an intermediate product in pyrimidine synthesis pathway, a subsequent product of which plays a role in conversion between dihydrofolate and tetrahydrofolate.
48
What happens if there is a deficiency of Carbamoyl phosphate synthetase I (CPS I )?
Ammonemia because of an accumulation of ammonia. CO2 + NH4 --> CPS I --> carbamoyl phosphate.
49
What is CPS II involved in?
It is involved in pyrimadine synthesis.
50
Describe the reaction of Ornithine transcarbamoylase.
Ornithine + carbamoyl phosphate--> Citrulline
51
What happens if there is a deficiency of Ornithine transcarbamoylase?
There will be an accumulation of carbamoyl phosphate (CP). This will spill out into the cytosol and react with CPS II. This will cause orotic aciduria.
52
What does 5alpha-reductase do?
The enzyme 5α-reductase converts testosterone to dihydrotestosterone, the hormone that is mainly responsible for benign prostatic hyperplasia (BPH) and prostate cancer. The patient has BPH, which is the most common cause of urinary retention with hydronephrosis (distention of the kidney) in elderly men
53
Learn about Magnesium deficiency.
Magnesium is involved in calcium metabolism. It is a cofactor of adenylate cyclase, which is involved in the activation of parathyroid hormone (PTH) and directly controls the synthesis and release of PTH. Aminoglycosides commonly cause significant magnesium wasting in the urine, leading to hypomagnesemia. This results in decreased synthesis and release of PTH and hypocalcemia (hypoparathyroidism). Hypocalcemia decreases the threshold potential for muscle and nerves to be closer to the resting membrane potential and leaves muscles and nerves in a partially depolarized state and subject to the clinical findings of tetany (e.g., carpopedal spasm), as is evident in this patient
54
Neonatal screening was performed too early after delivery; why is this bad for PKU?
PKU can be missed if screening is performed before the newborn ingests an adequate amount of protein. If infants are discharged early or screened before they are 24 hours old, they must be rescreened before the third week of life.
55
A 56-year-old man has been diagnosed with colorectal cancer. A tissue sample is obtained and sent for DNA analysis. What gene will most likely be found to contain a mutation?
Tp53.
56
A 65-year-old man is evaluated because of a 4-hour history of severe chest pain that radiates down the inside of his left arm. Medical history shows chronic alcoholism. Physical examination shows no neurologic abnormalities. Laboratory studies show a macrocytic anemia with hypersegmented neutrophils and mild pancytopenia. Plasma homocysteine concentration is increased. Electrocardiography shows evidence of a prior acute anterior myocardial infarction. A decrease in which of the following best explains the increase in plasma homocysteine in this patient?
Serum folate.
57
Learn about folate deficiency and alcoholism and homocystinuria.
Alcoholism is the most common cause of folate deficiency. Alcoholism accompanied by a poor diet leads to decreased liver stores of folate and decreased reabsorption of the monoglutamate form of folate in the jejunum. Vitamin B12 (cobalamin) removes the methyl group from N5-methyltetrahydrofolate (circulating form of folate) to produce methyl–vitamin B12 and tetrahydrofolate. The methyl group is then transferred to homocysteine to produce methionine. Therefore, a decrease in either N5-methyltetrahydrofolate (as in this case) or vitamin B12 results in increased plasma homocysteine concentrations. An increase in plasma homocysteine leads to damage of endothelial cells and the potential for vessel thrombosis, which may have played a role in this patient’s acute myocardial infarction
58
A deficiency of vitamin B12 is more likely than a deficiency of folic acid in which of the following patients?
Patient who has terminal ileal disease. This creates a malabsorption of B-12 binding to intrinsic factor.
59
A 38-year-old woman with diabetic ketoacidosis is evaluated in the emergency department. She reports blurry vision and severe pain in the upper central region of her abdomen. The pain radiates to her back. Physical examination shows turbidity of the retinal vessels and yellow papular lesions scattered over her trunk and limbs. Laboratory studies show increased chylomicrons and very low density lipoprotein. Which of the following mechanisms most likely accounts for these clinical and laboratory findings? Congenital absence of lipoprotein lipase or Increased liver synthesis of triacylglycerol?
Increased liver synthesis of triacylglycerol.
60
What is the relationship between a lack of insulin and capillary LPL?
The lack of insulin causes a decrease in the synthesis of capillary lipoprotein lipase; hence, chylomicrons and very low density lipoproteins (VLDL) are not hydrolyzed in the peripheral blood causing triacylglycerol concentrations to be extremely high.
61
A 6-month-old boy has hepatomegaly, hypotonia, and dilated cardiomyopathy caused by a lysosomal disorder. Which glycogen storage disease is most likely to account for these findings?
Type II Pompe's disease. Unlike other glycogen storage diseases (which are cytoplasmic enzyme disorders), Pompe's disease is a lysosomal disorder. Pompe's disease is caused by a deficiency of α-glucosidase. In affected patients, glycogen concentrations are high in all tissues. Severe, progressive, hypertrophic cardiomyopathy is characteristic and results in death before the age of 1 year.
62
A 6-hour-old infant who was born large for his gestational age at 24 weeks is evaluated because of respiratory difficulties associated with tachypnea and cyanosis. His mother had poorly controlled gestational diabetes. Which of the following substances most likely is deficient in this newborn? ``` Cardiolipin Cerebroside Ganglioside Lechithin ceramide ```
Lecithin.
63
What are Cardiolipins?
Cardiolipins are lipids that occur in high concentration in the inner mitochondrial membrane.
64
What does Lechithin do?
The newborn has respiratory distress syndrome (RDS), which is caused by a lack of production of lung surfactant by type II pneumocytes in the lungs. Dipalmitoyl phosphatidylcholine (lecithin), the primary lung surfactant, reduces surface tension, preventing the collapse of alveoli. RDS is very common in premature infants (usually at less than 32 weeks’ gestation) because of lung immaturity. Additionally, RDS frequently occurs in infants born to diabetic mothers as the result of fetal hyperglycemia and hyperinsulinemia, which delay surfactant production.
65
A 40-year-old man who is tall and has long, spidery fingers and displaced lenses dies suddenly when a dissecting aneurysm causes rupture of the aorta. A defect in the production of what substance is the most likely underlying cause of this patient's disease?
This patient has Marfan's syndrome and there is a DEFECT in the production of "Fibrillin"
66
A 66-year-old man who has been involved in an illicit moonshine whiskey operation complains of fatigue, headaches, and recurrent abdominal pain. He reports regular consumption of the moonshine. Blood analysis shows coarse basophilic stippling in his red blood cells and microcytic anemia. What laboratory study will best confirm the cause of the anemia?
Serum Lead test.
67
What are the associated signs and symptoms of Zinc deficiency?
The patient most likely has a deficiency of zinc, which commonly occurs in patients who have chronic inflammation. Associated signs and symptoms of zinc deficiency are poor wound healing, inability to taste (dysgeusia), inability to smell (anosmia), and a perioral rash, all of which are present in this patient. Zinc is a cofactor in many metalloenzymes, including superoxide dismutase, which neutralizes oxygen free radicals; collagenase, which is important in wound remodeling (problem in this patient); and alkaline phosphatase, which is important in bone mineralization
68
A 39-year-old man with alcoholism is taken to the emergency department suffering from weakness and disorientation. Findings on neurologic examination include paresthesia, ophthalmoplegia, nystagmus, foot drop, and wrist drop. The most likely diagnosis is a deficiency of a vitamin that is a cofactor of what enzyme? Transadolase Transketolase G6P DH Phosphopentose isomerase
Transketolase and TPP/B1 is deficient.
69
What happens in a Lipoprotein lipase deficiency?
Chylomicrons normally appear in plasma only after consumption of fat-containing meals. Lipoprotein lipase releases free fatty acids from the triglycerides in the chylomicrons. Patients with lipoprotein lipase deficiency have massive hypertriglyceridemia and lipemic serum.
70
A 20-year-old healthy woman with a family history of hereditary nonpolyposis colorectal cancer (HNPCC) has genetic testing and is found to be a carrier of the HNPCC gene. Genetic testing shows a mutation in a gene encoding a DNA repair protein. This protein most likely participates in which type of DNA repair?
Post-translational Mismatch Repair.
71
Xeroderma Pigmentosa has to do with malfunction of which type of DNA repair mechanism?
Nucleotide Excision Repair. This system removes bulky lesions, such as pyrimidine dimers caused by sunlight or DNA bases ligated to large hydrocarbons. The nucleotide excision repair system scans for DNA distortion rather than for a specific base change. An entire region of DNA surrounding the lesion is removed by DNA helicase and then repaired by DNA polymerase and DNA ligase. This system is defective in individuals with xeroderma pigmentosum.
72
In a series of experiments, investigators will delete various sites within a mammalian gene to determine how each deletion affects mRNA synthesis in vitro. Deletion of which site is most likely to completely abolish mRNA synthesis because of an inability to correctly position RNA polymerase II?
TATA box.
73
A 48-year-old man is evaluated because of a 5-day history of chronic diarrhea. He was born and raised in Mexico, and his diet consists mainly of corn and corn-related products. Physical examination shows a raised, hyperpigmented rash around his neck and on the back of both hands and forearms. A deficiency of which of the following vitamins is the most likely cause of these findings? Niacin PLP Vitamin C Vitamin D
Niacin.
74
A 48-year-old man who is scheduled for a lipid profile is instructed to fast for 12 hours before his blood sample is drawn at 8 a.m. the next day. The next morning, the blood is drawn, and serum studies show:A refrigerated plasma sample shows a creamy layer on the surface of the plasma, but the plasma itself is clear. An increase in which of the following best explains the appearance of the refrigerated sample? Chylomicrons VLDL LDL Chylomicrons and LDL
Chylomicrons.
75
A 5-year-old black child is brought to a medical missionary hospital in Africa. The child is apathetic, and physical examination findings include reddish-brown hair, a protuberant abdomen, hepatomegaly by percussion, ascites, and pitting edema of the lower extremities. What feature is most likely responsible for the hepatomegaly in this patient?
Decreased synthesis of apolipoproteins. In kwashiorkor, apolipoprotein synthesis is decreased as a result of the low protein intake. Thus triglyceride accumulates in the hepatocytes, with the accumulation producing fatty changes in the liver and massive hepatomegaly.
76
A 23-year-old man is brought to the emergency department after being found in a semi-comatose state in an alley. He is homeless, and other homeless people in the alley reported to the paramedic that the man may not have eaten for several days. Which of the following is most likely to be the primary source of this patient’s blood glucose? Liver glycogen Muscle protein Adipose TAG Muscle glycogen
Muscle protein. The majority of amino acids used for gluconeogenesis come from muscle breakdown during extended fasting. Recall that alanine undergoes transamination and is converted into pyruvic acid, and aspartate is converted into oxaloacetic acid.
77
What is unique about muscle glycogen?
Muscle lacks the phosphatase necessary to release glucose from glycogenolysis into the circulation. The glycogen it does break down into glucose is utilized by the muscles.
78
What disease is glucocerebrosidase involved in?
The patient has Gaucher disease, an autosomal recessive lysosomal storage disease characterized by a deficiency of glucocerebrosidase (β-glucosidase), leading to an accumulation of glucocerebroside in macrophages throughout the body.
79
A 27-year-old woman complains that she bruises easily and is found to have a prolonged prothrombin time (PT), but the activated partial thromboplastin time (aPTT) is normal. This patient most likely has a deficiency of what coagulation factor?
Prolongation of the PT is usually associated with a deficiency of a factor compromising the classic extrinsic and common pathways—that is, a deficiency of factor I, II, V, VII, or X.
80
Describe the function of each of the following enzymes: ``` Glycogen phosphorylase Glycogen phosphorylase kinase Glycogen synthase PEP carboxykinase Carnitine palmitoyltransferase ```
Glycogen phosphorylase = breaks a alpha 1-4 bond to release Glucose-1-P Glycogen phosphorylase kinase = phosphorylates glycogen phosphorylase to make it ACTIVE. Glycogen synthase catalyzes UDP-glucose addition to growing glycogen. PEP carboxykinase converts OAA into PEP and CO2. Carnitine palmitoyltransferase= bring FA's into the mitochondria for beta oxidation.
81
Vitamin E is the antioxidant that protects?
RBCs
82
AIP symptoms are associated with?
abdominal pain and neuro problems
83
Before RNA can leave the nucleus?
add 5' cap, add poly A 3' cap, and splicing/removing introns (processing).
84
What does wobble mean?
The third nucleotide in a codon can vary.
85
RNA pol II makes?
tRNA, which is the largest
86
Chloramphenicol does?
inhibits peptidyltransferase
87
Streptomycin does?
Binds to the 30S subunit and prevents the initiation step.
88
Enzyme deficiencies in EARLY vs. LATE
early = psych problems/no photosensitivity and late = dermis photosensitivity problems
89
Tetracyclines do...
Tetracyclines bind to the 30S ribosomal subunit and prevents attachment of aminoacyl tRNA
90
Vitamin B1 also called ...., is in ....
Thiamine, is in TPP. TPP is necessary in the the PDH.
91
What is the mechanism of Methotrexate?
Blocks folic acid synthesis by inhibiting dihydrofolate reductase necessary for pyrimidine synthesis.
92
What are the symptoms and what is the enzyme deficiency Type V McArdles disease?
The enzyme is Muscle glycogen phosphorylase and the symptoms are muscle cramping and weakness after exercise.
93
What are the symptoms and what is the enzyme deficiency of Type ? Her's disease?
The deficiency is in Liver glycogen phosphorylase lactic acidosis, enlarged liver and kidneys, ketosis, severe fasting hypoglycemia.
94
What is the enzyme deficiency in Andersen's disease?
Branching enzyme (4:6 transferase) in the liver and spleen.
95
What is the enzyme deficiency in Cori's glycogen storage disease?
Debranching enzyme (muscle and liver)
96
Pompe's Disease is associated with a deficiency of which enzyme?
alpha 1-4 glucosidase in lysosomes

Biochemistry Final (1 decks)

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