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52 Cards in this Set

  • Front
  • Back
Fat soluble Vitamins
Vit. A, D, E, K
-Absorption dependent on ileum and pancreas
Water soluble Vitamins
B1, B2, B3, B5, B6, B12, C, Biotin, Folate
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
Which test is used to detect the etiology of B12 deficiency?
Schilling Test
What three amino acids are necessary for purine synthesis?
Glycine
Aspartate
Glutamate
Orotic Aciduria
Autosomal Recessive
Inability to convert orotic acid to UMP.
increased in urine, megaloblastic anemia, not fixed with b12 or folate.
What do Floroquinolones inhibit?
DNA gyrases (specific prokaryotic topoisomerases)
What are the stop codons?
UAA
UAG
UGA
What do RNA polymerase I, II, and III make in eukaryotes?
I rRNA
II mRNA
III tRNA
How does UV damage DNA?
It creates thymine dimers on the same strand.
Where does the addition of mannose-6-phosphate to proteins occur?
In the golgi body. This tags it as a lysosomal protein.
What happens in I-cell disease?
Failure of addition of mannose-6-phosphate to lysosome proteins (enzymes are secreted outside the cell instead of in the lysosome). Fatal in childhood.
What is the defect in Chediak-Higashi syndrome?
Microtubule polymerization defect resulting in decreased phagocytosis.
Which syndrome presents with messed up dynein?
Kartagener's.
Remember that gap junctions are important for cilia movement/coordination.
Immunohistological Stains
Vimentin:
Desmin:
Cytokeratin:
Neurofilaments:
Immunohistological Stains
Vimentin: Connective tissue
Desmin: Muscle
Cytokeratin: Epithelial cells
Neurofilaments: Neurons
How does Ouabain work?
It inhibits Na/K ATPase by binding to the K site.
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
What does vitamin C do in the synthesis of collagen?
Hydroxylation of specific lysine and proline residues.
Treatment for Cystic Fibrosis that loosens mucous plugs?
N-Acetylcysteine.
Fragile X
CGG repeat disorder
Long face, big jaw, big ears, big testes, mitral valve prolapse
Difference between Kwashiorkor and Marasmus
Kwashiorkor- Protein deficiency
-Malnutrition, Edema (big belly), Anemia, Liver (fatty)
Marasmus- Malnutrition
-Muscle wasting
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
What is the rate-determining enzyme for the following metabolic process:
Glycolysis
Phosphofructokinase-1 (PFK-1)
What is the rate-determining enzyme for the following metabolic process:
Gluconeogenesis
Fructose 1,6 bisphosphatase
What is the rate-determining enzyme for the following metabolic process:
TCA cycle
Isocitrate dehydrogenase
What is the rate-determining enzyme for the following metabolic process:
Glycogen synthesis
Glycogen Synthase
What is the rate-determining enzyme for the following metabolic process:
Glycogenolysis
Glycogen phosphorylase
What is the rate-determining enzyme for the following metabolic process:
HMP Shunt
Glucose-6-phosphate dehydrogenase (G6PD)
What is the rate-determining enzyme for the following metabolic process:
De Novo pyrimidine synthesis
Carbamoyl phosphate synthetase II
What is the rate-determining enzyme for the following metabolic process:
De Nove purine synthesis
Glutamine-PRPP amidotransferase
What is the rate-determining enzyme for the following metabolic process:
Urea Cycle
Carbamoyl phosphate synthetase I
What is the rate-determining enzyme for the following metabolic process:
Fatty Acid synthesis
Acetyl-CoA Carboxylase (ACC)
What is the rate-determining enzyme for the following metabolic process:
Fatty Acid oxidation
Carnitine acyltransferase I
What is the rate-determining enzyme for the following metabolic process:
Ketogenesis
HMG-CoA synthase
What is the rate-determining enzyme for the following metabolic process:
Cholesterol synthesis
HMG-CoA reductase
What is the rate-determining enzyme for the following metabolic process:
Bile Acid synthesis
7-alpha hydroxylase
Glycloytic enzyme deficiency is associated with hemolytic anemia, why? Which enzyme is deficient?
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.
Which enzyme is deficient in fructose intolerance?
In essential fructosuria?
Aldolase B (hypoglycemia, jaundice, cirrhosis, vomiting)
Fructokinase (benign, does not enter cells)
Which enzyme is deficient in classic galactosemia?
Galactose-1-phosphate uridyltransferase (failure to thrive, hepatomegaly, infantile cataracts, mental retardation.
What is accumulated if galactokinase is missing?
Galactitol (cataracts)
Which two amino acids are ketogenic (can be converted to ketones)?
Lysine and Leucine
What is excess carbamoyl phosphate converted to in ornithine transcarbamylase deficiency?
Orotic acid.
What enzyme is deficient in PKU?
Phenylalanine hydroxylase
What is caused when there is a congenital deficiency of homogentisic acid oxidase?
Alkaptonuria
-Dark connective tissue, pigmented sclera, urine turns black on standing, may have debilitating arthralgias.
Melanin is converted from tyrosine. What happens in albinism?
Decreased melanin due to decrease in tyrosinase or defective tyrosine transporters.
What converts homocysteine to cystathione then to cysteine? What happens when homocysteine levels are increased?
Cystathione synthase.
Homocysteinuria, which causes, tall stature, mental retardation, kyphosis, and lens subluxation.
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.
What is caused by blocked degradation of branched amino acids (Ile, Leu, Val)? What enzyme is deficient here?
Maple syrup urine disease.
Decreased alpha-ketoacid dehydrogenase.
MSUD causes CNS defects, mental retardation, and death.
What is characterized by defective neutral amino acid transporter on renal and intestinal epithelial cells?
Hartnups disease.
Causes tryptophan excretion in urine.
Since tryptophan is used to make Niacin, Hartnup's causes pellagra.
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
Niemann-Pick (red spot on macula, foam cells)
Deficient enzyme: sphingmyelinase

Accumulated sphingomyelin
No Man Picks his nose with his Sphinger
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.