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106 Cards in this Set
- Front
- Back
Deficiency of this vitamin leads to night blindness and dry skin-- it is an important constituent of visual pigment: |
* Vitamin A (Retinol)
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Deficiency of this vitamin leads to Ber1Ber1 (Beriberi) and Wernicke-Korsakoff syndrome:
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* Vitmain B1 (Thiamine)
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Deficiency of this vitamin leads to angular stomatitis, Cheilosis, and Corneal vascularization:
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* Vitamin B2 (Riboflavin)
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Niacin deficiency is also known as:
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* Pellagra (3 D's-- diarrhea, dermatitis, dementia, and beefy glossitis)
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How is niacin made in the body?
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* From excess Tryptophan
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2 disorders that can predispose a pt to pellagra:
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* Hartnups disease (tryptophan loss) and Carcinoid syndrome (all tryptophan is used to make seratonin)
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Tryptophan plus what B-vitamin is need to make niacin?
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* B6 (pyridoxine)
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Vitamin B5 is a constituent of:
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* CoA
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Deficiency commonly seen with B6 (pyridoxine deficiency):
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* Convulsions, peripheral neuropathy, sideroblastic anemia
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Common causes of B6 deficiency:
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* Isoniazid therapy for TB, sometime oral contraceptives
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Vitamin B12 requires what for absorption in the terminal ileum:
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* Intrinsic factor from parietal cells
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How do you differentiate a pt deficient in B12 or Folate?
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* B12 deficiency has NEURO sx along with MACRO-cytic/megaloblastic anemia
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Consuming large amount of raw eggs can lead to deficiency of:
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* Biotin (AVIDin in egg whites, AVIDly binds biotin)
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A pt with Vitamin C deficiency will get:
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* Scurvey (poor wound healing, swollen gums, bruising, anemia)
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What is the metabolic function of Vitamin C?
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* Facilitates Iron (Fe2+) absorption by keeping it in a reduced state
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What test is used to dx a B12 deficiency?
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* Schilling test
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Vitamin that is used as a cofactor for transaminase reactions (ALT/AST):
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* Vitamin B6
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Vitamin that is a constituent of NAD+ and NADP+ used in redox reactions:
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* Vitamin B3 (Niacin)
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Important supplement for synthesis of nitrogenous bases:
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* Folate (deficiency can lead to neural tube defects)
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Where do you get vitamin D2 and D3 from?
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* D2 (ergocalciferol) from milk
D3 (cholecalciferol) sun-exposed skin |
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What is the active and what is the storage form of vitamin D?
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* Storage = 25-hydroxy-D3
Active = 1,25-hydroxy-D3 (calcitriol) |
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Deficiency of vitamin D leads to what in kids and what in adults?
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* D-deficient kids = Rickets
D-deficient adults = Osteomalacia |
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What is the active form of vitamin D?
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* Calcitriol (1,25 (OH)2 D3)
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Vitamin E is most important to these cells:
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* Vitamin E is for Erythrocytes
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What are the vitamin K dependent clot factors:
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* Factors 2, 7, 9, 10, and protein C & S
Warfarin is a vitamin K antagonist |
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What can happen in zinc deficiency?
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* Loss of adult hair (axillary, facial, pubic), delayed wound healing, hypogonadism
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Limiting reagent in EtOH metabolism:
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* NAD+
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What does Fomepizole inhibit in EtOH metabolism?
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* Inhibits Alcohol dehydrogenase
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What does Disulfiram inhibit in alcohol metabolism?
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* Inhibits Acetaldehyde dehydrogenase
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Why do alcoholics sometime become hypoglycemic?
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* Increase in NADH/NAD+ ratio which inhibits gluconeogenesis in the liver
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How do you get Kwashiorkor?
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* Lack of protein in the diet-- kids with swollen bellys
MEAL (malnutrition, edema, anemia, liver-fatty) |
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How do you get Marasmus?
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* Energy malnutrition-- muscle and tissue wasting occur, loss of subcutaneous fat
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Chromatin that is less condensed and transcriptionally active:
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* Euchromatin (heterochromatin in inactive)
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Only histone that is not in the nucleosome core:
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* H1 (ties nucleosomes in a string)
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What are the purines and how many rings do they have?
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* A and G (have 2 rings)
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Which nucleotides bond the strongest because they have 3 H-bonds?
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* G-C (has 3 H-bonds)
(more G-C bonds = higher melting point) |
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What are the pyrimidines and how many rings do they have?
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* C, U, T -- (have 1 ring)
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What 3 amino acids are required for purine synthesis?
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* GAG (glycine, aspartate, glutamine)
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Substituting a purine for another purine is:
Substituting a pyrimidine for a purine is: |
* Same (purine for purine) = transition
ConVersion = TransVersion (purine for pyrmidine or vice versa) |
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A DNA mutation that results in a stop codon is:
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* a NONSENSE mutation (stop the nonsense)
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DNA mutation that results in misreading of all nucleotides downstream-- usually results in a truncated protein:
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* Frameshift
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3 stop codons are:
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* UGA (u go away), UAA (u are away), UAG (u are gone)
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Alpha-amanitin is found in the death cap mushroom and inhibits:
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* RNA polymerase II (makes mRNA)
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Part of DNA that is contains the actual genetic info coding for the protein:
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* Exons (INtrons stay IN the nucleus, whereas EXons EXit and are EXpressed)
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Where do Rb and p53 suppressor normally inhibit the cell cycle?
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* G1 to S progression
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Permanent cells such as Neurons, Skeletal/Cardiac muscle, and RBC's remain in what cell cycle phase?
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* G0 phase
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These two body cells are stable, that is they will enter G1 from G0 when stimulated:
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* Hepatocytes and lymphocytes
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Labile cells never go to G0 and divide rapidly with a short G1:
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* Bone marrow, gut epithelium, skin, hair follicles
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Drugs that inhibit microtubules include:
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* Mebendazole (antihelminthic), Paclitaxel (anti-breast cancer), Griseofulvin (antifungal), Vincas (anticancer), and Colchicine (anti-gout)
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Syndrome characterized by microtubule polymerization defects resulting in decreased phagocytosis:
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* Chediak-Higashi syndrome
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Syndrome that causes immobile cilia due to a dynein arm defect-- results in infertility, sinusitis, and situs inversus:
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* Kartagener's syndrome
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Use this stain for connective tissue:
Use this stain for muscle tissue: |
* Vimentin for CT
Desmin for muscle |
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Type I collagen is important for:
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* Bone, skin, tendon, dentin, fascia, cornea, and late wound repair
Osteo Imperfecta-- deficient Type I collagen |
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Type II collagen is important for:
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* Cartilage, vitreous body, nucleous pulposus
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Type III collagen is important for:
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* Skin, blood vessels, uterus, fetal tissue, and granulation tissue
Ehlers-Danlos-- deficient type III collagen |
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Type IV collagen is important for:
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* Basement membrane
Goodpastures-- deficient type IV collagen |
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What part of collagen synthesis requires vitamin C?
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* Hydroxylation of proline and lysine in the ER
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Disorder of type III collagen causing hyperextensible skin, easy bruising, hypermobile joints, and associated with Berry aneurysms:
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* Ehlers-Danlos syndrome
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Elastase is inhibited by:
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* Alpha-antitrypsin
Emphysema can be caused by excess elastase activity |
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These 3 metabolic processes all occur in both the mitochondria and cytoplasm:
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* HUG's take 2 (Heme synthesis, Urea cycle, and Gluconeogenesis)
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Hexokinase is feedback inhibited by:
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* Glucose-6-phosphate
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Where is glucokinase found and what does it do?
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* Found in the liver and pancreatic beta cells, it phosphorylates excess glucose to sequester in the liver
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Rate limiting enzyme in glycolysis:
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* Phosphofructokinase-1
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Most potent activator of phophofructokinase:
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* Fructose 2,6 BP
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How do RBC's metabolize glucose?
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* Anaerobically via glycoysis
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Rate limiting enzyme of gluconeogenesis:
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* Pyruvate carboxylase
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Rate limiting enzyme of TCA cycle:
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* Isocitrate dehydrogenase
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Rate limiting enzyme of Heme synthesis:
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* ALA synthase
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Rate limiting enzyme of Urea cycle:
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* Carbamoyl phosphate synthase I (CPS I)
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Rate limiting enzyme of HMP shunt:
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* G6PD (glucose 6 phosphate dehydrogenase)
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Rate limiting enzyme of ketogenesis:
Rate limiting enzyme of cholesterol synthesis: |
* Keto = HMG-CoA synthase
Cholesterol = HMG-CoA reductase |
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G6PD is need for this pathway _____ so that NADPH is produced to keep _____ reduced.
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* needed for HMP shunt so that NADPH can reduce glutathione to detoxify free radicals and peroxides
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Fructose intolerance is d/t hereditary deficiency of:
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* Aldolase B (must decrease intake of fructose and sucrose)
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Essential fructosuria is d/t a defect in:
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* Fructokinase (fructose appears in blood and urine)
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Absence of what enzyme causes galactosemia:
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* Absence of galactose-1-phosphate uridyltransferase (AR disorder)
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This disorder of aromatic amino acid metabolism can lead to MR, eczema, fair skin, and a musty body odor:
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* Phenylketonuria (decreased phenylalanine hydroxylase)
Tx: increased TYROSINE in diet |
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What are 2 underlying causes of Albinism:
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* Deficient Tyrosinase or defective tyrosine transporters
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What are the 3 branched amino acids that are blocked in Maple Syrup Urine Disease?
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* Ile, Val, Leu (I Love Vermont Maple Syrup)
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Disorder that is a purine salvage problem owing to the absence of HGPRT:
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* Lesch-Nyhan syndrome
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These don't need insulin for glucose uptake:
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* BRICK L (Brain, RBC's, Intestine, Cornea, Kidney, and Liver)
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A person who has no C-peptide has:
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* DM type I (they have no endogenous insulin)
Endogenous (body) insulin has C-peptide |
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Where are GLUT1 receptors found?
GLUT 2? GLUT 4? |
* GLUT 1 = RBC's and brain
GLUT 2 = B-cells, liver, kidney GLUT 4 = adipose tissue, skeletal muscle |
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The 2 essential fatty acids:
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* Linoleic and Linolenic acids
(Eicosanoids are dependent on fatty acids) |
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What are the function of the following lipoproteins: B100, CII, B-48, A1
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* A1 = Activates LCAT
B100 = Binds LDL receptor, mediates VLDL secretion CII = Cofactor for lipoprotein lipase B48 = Mediates chylomicron secretion |
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What is the deficiency in familial hypercholesterolemia?
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* Decreased LDL receptors
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Disorder of glucose-6-phosphate where there is severe fasting hypoglycemia, high LACTATE, and hepatomegaly:
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* Von Gierkes disease (Type I Glycogen storage disease)
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Disorder of Lysosomal alpha-1,4-glucosidase with cardiomegaly and systemic findings leading to death:
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* Pompe's disease (Type II glycogen storage disease)
Pompes trashes the pumps (heart, liver, muscle) |
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Disorder of debranching enzyme alpha 1,6 glucosidase where gluconeogenesis is intact and blood lactate levels are normal:
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* Cori's disease (Type III glycogen storage disease)
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Disorder of skeletal muscle glycogen phosphorylase where increased glycogen in muscle leads to painful muscle cramps and myoglobinuria with exercise:
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* McArdle's disease (Type V glycogen storage disease)
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Pneumonic for remembering the 4 main glycogen storage diseases:
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* Very Poor Carb Metabolism
Von Gierkes I -- low sugar, high lactate Pompe's II -- trashes the pump Cori's III -- normal lactate McArdles V -- muscle pain/myoglobinuria |
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2 XR lysosomal storage diseases from first aid:
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* Fabry's and Hunters
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Kid with MR, gargoylism, airway obstruction, course features, and CORNEAL CLOUDING think:
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* Hurlers syndrome (accumulation of Heparan and Dermatan Sulfate)
Hurler's is AR, Hunter's is XR |
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What is the deficient enzyme in a MR kid with course features and corneal clouding:
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* Alpha-L-IDURONIDASE (Hurler's)
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A kids with a mild MR, aggressive behavior, and NO corneal clouding think:
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* Hunter's syndrome (accumulation of Heparan and Dermatan Sulfate)
Hunter aim for the X-- it is XR |
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What are the deficient enzymes seen in Hunter's and Hurlers syndrome (both are accumulation of dermatan and heparan sulfate):
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* Hurlers = alpha-L-Iduronidase
Hunters = Iduronidate SULFATE |
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Way to remember differences between Hurlers and Hunters:
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* Hurlers need AI (alpha Iduronidase) and are serious and CLOUDY (corneas)
Hunters IS (Iduronidate sulfate) good at aiming for the X (XR inheritance) |
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Kid with hepatosplenomegaly, ASEPTIC NECROSIS OF THE FEMUR, bone crisis, think:
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* Gauchers-- deficient Beta-glucocerebrosidease leading to accumulation of glucocerebroside
This is AR inheritance and is the most common lysosomal storage disease |
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Kid with hepatosplenomegaly, neurodegeration, FOAM CELLS + CHERRY-RED SPOT on macula think:
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* Niemann-Pick disease (deficient sphingomyelinase leading to accumulation of sphingomyelin)
NP is an AR inheritance |
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Kid with neurodegeneration, developmental delay, and ONION SKIN LYSOSOMES + CHERRY-RED SPOT think:
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* Tay-Sachs (deficient hexosaminidase A leading to accumulation of GM2 ganglioside)
TS is AR inheritance |
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Kid with peripheral neuropathy, developmental delay, OPTIC ATROPHY, and globoid cells think:
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* Krabbe's disease (deficient galactocerebrosidase leading to accumulation of galactocerebroside)
Krabbes is AR inheritance |
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A kid with central and peripheral demyelination with dementia and ataxia think:
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* Metachromatic leukodystrophy (arylsulfatase A deficiency leading to accumulation of cerbroside sulfate)
ML is an AR inheritance |
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A kid with peripheral neuropahty or hands/feet, ANGIOKERATOMAS, and cardio/renal disease think:
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* Fabry's disease (alpha-galactosidase A deficiency leading to an accumulation of ceramide trihexoside)
Fabry's is XR inheritance, like Hunters disease |
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This chemical is the most potent regulator of the rate-limiting step of glycolysis:
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* Fructose 2,6 BP
(activates PFK-1) |
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These 2 compounds are inhibitors of the rate limiting step of glycolysis:
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* Citrate and ATP (although F 2,6 BP can override their inhibition)
Rate-limit of glycolysis = PFK-1 |
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How does insulin affect glycolysis and how?
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* Insulin activates F2,6 BP thus activating PFK-1 (the rate limiting step in glycoysis)-- this all occurs in the FED state
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In an ischemic heart during a heart attack, what compound will be elevated in the cardiac cells?
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* PFK-1 -- Rate limiter of glycolysis
Anaerobic state predominates |