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52 Cards in this Set
- Front
- Back
Fat soluble Vitamins
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Vit. A, D, E, K
-Absorption dependent on ileum and pancreas |
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Water soluble Vitamins
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B1, B2, B3, B5, B6, B12, C, Biotin, Folate
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What are the other names for the following vitamins:
B1, B2, B3, B5, B6, B12, C, |
B1- Thiamine: TPP
B2- Riboflavin: FAD, FMN B3- Niacin: NAD B5- Pantothenic Acid: CoA B6- Pyridoxine:PLP B12- Cobalamin C- Ascorbic Acid |
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Which test is used to detect the etiology of B12 deficiency?
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Schilling Test
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What three amino acids are necessary for purine synthesis?
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Glycine
Aspartate Glutamate |
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Orotic Aciduria
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Autosomal Recessive
Inability to convert orotic acid to UMP. increased in urine, megaloblastic anemia, not fixed with b12 or folate. |
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What do Floroquinolones inhibit?
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DNA gyrases (specific prokaryotic topoisomerases)
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What are the stop codons?
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UAA
UAG UGA |
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What do RNA polymerase I, II, and III make in eukaryotes?
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I rRNA
II mRNA III tRNA |
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How does UV damage DNA?
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It creates thymine dimers on the same strand.
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Where does the addition of mannose-6-phosphate to proteins occur?
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In the golgi body. This tags it as a lysosomal protein.
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What happens in I-cell disease?
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Failure of addition of mannose-6-phosphate to lysosome proteins (enzymes are secreted outside the cell instead of in the lysosome). Fatal in childhood.
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What is the defect in Chediak-Higashi syndrome?
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Microtubule polymerization defect resulting in decreased phagocytosis.
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Which syndrome presents with messed up dynein?
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Kartagener's.
Remember that gap junctions are important for cilia movement/coordination. |
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Immunohistological Stains
Vimentin: Desmin: Cytokeratin: Neurofilaments: |
Immunohistological Stains
Vimentin: Connective tissue Desmin: Muscle Cytokeratin: Epithelial cells Neurofilaments: Neurons |
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How does Ouabain work?
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It inhibits Na/K ATPase by binding to the K site.
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Collagen Types
I II III IV |
I-Bone, tendon, skin, dentin
II- Cartilage, vitreous body III-skin, blood vessels, uterus, granulation tissue IV-Basement membrane or basal lamina |
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What does vitamin C do in the synthesis of collagen?
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Hydroxylation of specific lysine and proline residues.
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Treatment for Cystic Fibrosis that loosens mucous plugs?
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N-Acetylcysteine.
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Fragile X
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CGG repeat disorder
Long face, big jaw, big ears, big testes, mitral valve prolapse |
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Difference between Kwashiorkor and Marasmus
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Kwashiorkor- Protein deficiency
-Malnutrition, Edema (big belly), Anemia, Liver (fatty) Marasmus- Malnutrition -Muscle wasting |
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What is metabolized in the following:
Mitochondria Cytoplasm Both M and C |
Mitochondria- Beta oxidation of fatty acids, acetyl CoA production, TCA cycle, oxidative phosphorylation
Cytoplasm- Glycolysis, fatty acid synthesis, HMP shunt, protein synthesis (RER), steroid synthesis (SER) Both-Heme synthesis, Urea cycle, Gluconeogenesis |
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What is the rate-determining enzyme for the following metabolic process:
Glycolysis |
Phosphofructokinase-1 (PFK-1)
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What is the rate-determining enzyme for the following metabolic process:
Gluconeogenesis |
Fructose 1,6 bisphosphatase
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What is the rate-determining enzyme for the following metabolic process:
TCA cycle |
Isocitrate dehydrogenase
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What is the rate-determining enzyme for the following metabolic process:
Glycogen synthesis |
Glycogen Synthase
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What is the rate-determining enzyme for the following metabolic process:
Glycogenolysis |
Glycogen phosphorylase
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What is the rate-determining enzyme for the following metabolic process:
HMP Shunt |
Glucose-6-phosphate dehydrogenase (G6PD)
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What is the rate-determining enzyme for the following metabolic process:
De Novo pyrimidine synthesis |
Carbamoyl phosphate synthetase II
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What is the rate-determining enzyme for the following metabolic process:
De Nove purine synthesis |
Glutamine-PRPP amidotransferase
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What is the rate-determining enzyme for the following metabolic process:
Urea Cycle |
Carbamoyl phosphate synthetase I
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What is the rate-determining enzyme for the following metabolic process:
Fatty Acid synthesis |
Acetyl-CoA Carboxylase (ACC)
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What is the rate-determining enzyme for the following metabolic process:
Fatty Acid oxidation |
Carnitine acyltransferase I
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What is the rate-determining enzyme for the following metabolic process:
Ketogenesis |
HMG-CoA synthase
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What is the rate-determining enzyme for the following metabolic process:
Cholesterol synthesis |
HMG-CoA reductase
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What is the rate-determining enzyme for the following metabolic process:
Bile Acid synthesis |
7-alpha hydroxylase
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Glycloytic enzyme deficiency is associated with hemolytic anemia, why? Which enzyme is deficient?
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The inability to maintain activity an Na/K ATPase leads to RBC swelling and lysis.
RBC's depend solely on glycolysis, therefore the enzyme that is missing is pyruvate kinase. |
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Which enzyme is deficient in fructose intolerance?
In essential fructosuria? |
Aldolase B (hypoglycemia, jaundice, cirrhosis, vomiting)
Fructokinase (benign, does not enter cells) |
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Which enzyme is deficient in classic galactosemia?
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Galactose-1-phosphate uridyltransferase (failure to thrive, hepatomegaly, infantile cataracts, mental retardation.
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What is accumulated if galactokinase is missing?
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Galactitol (cataracts)
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Which two amino acids are ketogenic (can be converted to ketones)?
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Lysine and Leucine
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What is excess carbamoyl phosphate converted to in ornithine transcarbamylase deficiency?
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Orotic acid.
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What enzyme is deficient in PKU?
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Phenylalanine hydroxylase
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What is caused when there is a congenital deficiency of homogentisic acid oxidase?
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Alkaptonuria
-Dark connective tissue, pigmented sclera, urine turns black on standing, may have debilitating arthralgias. |
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Melanin is converted from tyrosine. What happens in albinism?
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Decreased melanin due to decrease in tyrosinase or defective tyrosine transporters.
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What converts homocysteine to cystathione then to cysteine? What happens when homocysteine levels are increased?
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Cystathione synthase.
Homocysteinuria, which causes, tall stature, mental retardation, kyphosis, and lens subluxation. |
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What happens in cystinuria? What is a possible complication?
How do you treat it? |
There is a defect in the transporter for cystine in the PCT of the kidneys. This causes an increase in the cystine in the urine which can lead to the precipitation of cystine kidney stones (cystine staghorn calculi).
Give acetazolamide (C.A. inhibitor) to alkalinize the urine. |
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What is caused by blocked degradation of branched amino acids (Ile, Leu, Val)? What enzyme is deficient here?
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Maple syrup urine disease.
Decreased alpha-ketoacid dehydrogenase. MSUD causes CNS defects, mental retardation, and death. |
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What is characterized by defective neutral amino acid transporter on renal and intestinal epithelial cells?
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Hartnups disease.
Causes tryptophan excretion in urine. Since tryptophan is used to make Niacin, Hartnup's causes pellagra. |
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What are the deficient enzymes in the following Glycogen storage diseases:
Von Gierke's (Type I) Pompe's (Type II) Cori's (Type III) McArdle's (Type IV) |
Mnemonic: Very Poor Carbohydrate Metabolism
Type I- Glucose-6-Phosphatase Type II- Lysosomal alpha1,4, glucosidase Type III- Debranching enzyme Type IV- skeletal muscle glycogen phosphorylase |
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Niemann-Pick (red spot on macula, foam cells)
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Deficient enzyme: sphingmyelinase
Accumulated sphingomyelin No Man Picks his nose with his Sphinger |
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Major apolipoproteins
A1 B100 CII B48 E |
A1- Activates LCAT
B100-Binds LDL receptor, mediates VLDL secretion CII-Cofactor for LPL B48-Mediates chylomicron secretion E-Mediates Extra (remnant) uptake. |