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DEMS REVIEW > DEMS IIb Review > Flashcards

DEMS IIb Review Flashcards

1
Q

Basic AA

A

Arginine (Arg), Lysine (Lys), Histidine (His).

Arg is most basic.

His has no charge at body pH. Arg and His required for growth. Arg and Lys in abundant in histones, which bind negatively charged DNA.

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2
Q

Acidic AA

A

Aspartic Acid (Asp), and Glutamic Acid (Glu). Negatively charged at body pH.

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3
Q

Polar AA

A

o

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4
Q

Glucogenic and Ketogenic AA

A

o Isoleucine (Ile), phenylalanine (Phe), Threonine (Thr), and Tryptophan (Trp)

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5
Q

Essential

A

Isoleucine, Threonine, Tryptophan, and Phenyalanine

Aspartic acid, glutamic acid

Arg, Lysine, Histidine

Methionine, Valine, Histidine

Leucine and Lysine

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6
Q

Non-essential

A

Everything else

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7
Q

Glucogenic

A

Methionine, Valine, and Histidine (Essential Ones)

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8
Q

Ketogenic

A

Leucine and Lysine

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9
Q

Imp Post-translationally modified AA

A

Hyp for H-Bonding in collagen. Hyl for cross-linking in collagen. Y-carboxyglutamate for prothrombin –> attaches to membrane via Ca++ chelation. Ornithine –> recycled and has multiple functions (urea cycle).

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10
Q

SAM

A

Energy source, methyl donor, precursor for homocysteine (imporatn for vascular stuff and B12 and folate metabolism). Methionine is used to produce SAM, then SAH, then Homocysteine, then back to Met.

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11
Q

Glutathione

A

o Tri-peptide that contains cysteine and serves as an important redox buffer and protects against radical free injury (reducing H2O2 to H2O). Cofactor for glutathione transferase, GST.

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12
Q

Amino Acid Derivatives

A

o Phenylalanine (w/BH4) –> Tyrosine (w/ BH4) –> Thyroxine and DOPA –> Melanin and Dopamine (Da w/ Vit C) –> NE (w/ SAM) –> Epi. Tryptophan (with BH4) –> Serotonin –> Melatonin.

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13
Q

TSH

A

o Thyroid stimulating hormone. Stimulates iodide uptake for release of T4, T3.

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14
Q

Thyroglobulin

A

o Tyrosine is used to make T4 from thyroglobulin.

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15
Q

Thyroxin Binding Globulin

A

o Transports T4 and T3

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16
Q

Methionine

A

o Met -> SAM -> SAH -> Homocysteine -> MET

OR Met -> SAM -> Homocysteine -> Crystathionine -> Cysteine

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17
Q

Hyperhomocysteinemia

A

o Causes CVD, usually due to low folate, B6, and B12 (required to transfer methyl group to become methionine or crystathionine)

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18
Q

Homocystinuria

A

o defect in crystathionine-b-synthase (CBS) and cannot convert homocysteine to crystathionine (and eventually cysteine); Tx w/ B6 to force CBS activity

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19
Q

Cysteinuria

A

o kidney stones (renal failure) due to defective transporter of cysteine (& Ornithine, Lysine, Arginine) à crystallization. Tx w/ acetazolamide to make it more soluble

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20
Q

Phenylketouria (PKU)

A

o defect in phenylalanine hydroxylase; leads to build up of alternative byproducts; AR, mental retardation and autistic behaviors, white matter hyperintensities

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21
Q

BH4 (Tetrabiopterinhydroxylase)

A

o Used in amino acid derivatives –> hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase

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22
Q

Ribonucleotide reductase

A

o convert ribose to deoxyribose; blocked in SCID because excessive dATps due to mutation in adenosine deaminase

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23
Q

SCID

A

o mutation in adenosine deaminase (enzyme used in purine degradation)  dATP builds up  blocks ribonucleotide reductase > no dNTPs made  immune system affected.

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24
Q

Gout

A

o Build of uric acid; closed ring waste product of purines.

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25
Q

Lesch Nyhan

A

deficiency in in one of the primary enzymes in purine salvage pathway (HGPRT), leading to higher rates of de novo synthesis of purines. Gout symptoms, self-mutilating behavior, and other severe mental disorders

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26
Q

Methotrexate and 5-flurouracil

A

o targets thymidylate synthase/ folate metabolism cycle (anti cancer)

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27
Q

6-mercaptopurine

A

o inhibits AMP synthesis (anti HIV)

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28
Q

Azidothymidine (AZT)

A

o Azidothymidine (AZT) à inhibits viral polymerase

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29
Q

Cytosine arabinoside (araC)

A

o targets DNA polymerase (anti leukemia)

30
Q

Acyclovir (ACV)

A

o targets viral DNA polymerase and reverse transcriptase (anti HSV)

31
Q

Acivicin

A

o Gln analog, inhibits nucleotide synthesis (mostly GMP, anti cancer)

32
Q

Alkaptonuria

A

o An aminoacidopathy. black urine, black pigmentation of cartilage and collagen, degenerative arthritis from fourth decade

33
Q

Hypermethionemia

A
  • Result from CBS Deficiency; homocysteine can’t transform to crystathionine
  • Skeletal Malformations: Marfanoid habitus, osteoporosis, scoliosis, most common in B6 non-responsive forms; give B6 to push CBS (50%v of cases are responsive). Recurrent thromboembolism, eye abnormalities, developmental disability and neuropsychiatric symptoms
  • Similar to homocysteinemia
34
Q

Ornithine Transcarbamylase (OTC) Deficiency

A
  • X-linked; male hemizygotes with no enzyme activity may not survive the newborn period. 15% of female heterozygotes wil have clinical symptoms ranging frommild to severe (dependent on pattern of X-inactivation)
  • Elevated orotic acid, low citrulline, and elevated glutamine. Specific disorder may be suspected à DNA testing or enzyme assay
35
Q

Gaucher Type I

A

Fatigue, bony pain, enlarging abdomen

Anemia, thrombocytopenia, hepatosplenomegaly, avascular necrosis in bones, Erlenmyer flask deformity

Beta glucosidase (aka glucocerebrosidase)

Enzyme replacement or oral substrate inhibition

AR, high in Ashkenazi Jews, adult onset

36
Q

Tay Sachs Type I

A

Tay Sachs Type 1 (Early childhood)

Blindness, seizures, mental/motor deterioration, likely will die

Eye (Cherry Red Spot); increased startle reflex,

Beta-hexoaminidase

Supportive

AR, higher in Ashkenazi Jews

37
Q

Fabry’s

A

Fabry Disease

Acroparesthesia, proteinuria, renal failure, left ventricular hypertrophy/stroke, dark red, angiokeratomas (bathing suit distribution)

Proteinuria and LVH

Alpha-galactosidase

Agalsidase beat

X-Linked

38
Q

Pompe

A

Pompe Disease

Infant with progressive muscle weakness and LVH

Adult with proximal muscle weakness and respiratory weakness (sleep apnea)

Elevated CK; glycogen in muscle biopsy

Alpha-glucosidase

Alglucosidase alfa

Infantile present 3-6 months; Adult

; slow progressive muscle weakness

AR

39
Q

Hunter

A

Hunter

Coarse facies, airway disease, ear infections, hoarse voice, no corneal clouding

Hepatosplenomegaly; short stature

Iduronate sulfatase

Idursulfase

X linked recessive;male

40
Q

Hurler

A

Hurler

Coarse facies, airway disease, ear infections, hoarse voice, corneal clouding, hearing loss

Hepatosplenomegaly, short stature

Alpha iduronidase

Iaronidase

AR, girl

41
Q

Estimated Average Requirement (EAR)

A
  • Estimated Average Requirement (EAR) àused to assess inadequate intake and planning goal intake for group. 50% of individuals
42
Q

Recommended Daily Allowance (RDA)

A
  • 95-97% of individuals; should be used as a goal for dietary intake by healthy individuals; not to assess/ plan diets of group
43
Q

When to start feeding someone in the hospital

A
  1. Well nourished, minimal acute illness 10-14 days
  2. Undernourished, mildly ill or Nourished, severely ill 5-7 days
  3. Undernourished; seriously ill 3-5 days
44
Q

Vitamin A

A

Vision, conjunctival membrane and cornea, epithelial differentiation and proliferation

Preformed- animal products

Precursor- deep colored vegetables

Night blindness, xerophthalmia; use for tx in measles

Only with preformed, NV, ICP, HA, bone and liver pain.

Serum retinol

45
Q

Vit D

A

Hormone, Ca++ homeostasis, innate immunity, and cell growth and differentiation

Precursor in skin, animal and plant sources

Rickets

hypercalcemia

Serum 25OH Vit D

46
Q

Vit E

A

Antioxidant, free radical scavenger, cell membrane stabilizer

Polyunsaturated vegetable oils, wheat germ

Neurologic degeneration, hemolytic anemia

Low; coagulopathy

47
Q

Vit K

A

Carboxylation of coagulation proteins

Leafy vegetables, fruits, seeds, synthesized by intestinal bacteria

Hemorrhagic disease of newborn, purpura

Newborns should receive single IM dose

48
Q

Folate

A

1-carbon transfers

foliage

Macrocytic anemia, increases homocysteine NTD, glossitis

RBD folate for tissue storesV

49
Q

B6

A

AA metabolism

Animal products, vegetables, whole grain

Anemia, glossitis, seizures

Ataxia/ impaired position/vibratory sensation

Pyridoxal phosphate, homocysteine

Also CBS cofactor

50
Q

B12

A

Folate metabolism and 1-c transfers, metabolism of odd chain length FA

Macrocytic anemia, glossitis, Neurologic distrubrane;

Don’t tx anemia with folate unless B12 deficiency has been ruled out to avoid neurological defects

Methylmelonic acid and homocysteine

51
Q

Vit C

A

Antioxidant, collagen, increase freq of taking it, not large dose

FV

Scurvy: petechaie, bleeding gums, anemia, bruising, weakness and fatigue, jont pain.

Leukocyte or plasma ascorbic acid level

52
Q

Thiamine B1

A

Coenzyme to metabolism

Whole grains, lean pork, legumes

Ber1ber1- wet and dry, Wernicke Korsakofff

Erythrocyte transketolase activity; blood thiamine levels

53
Q

Riboflavin B2

A

TCA, AA and FA, K, folate, B6, and B3 metabolism

Liver and wheat germ are rich in sources

Cracking of lips- cheilosis

Stomatitis- sores at corner of mouth, vascularization of conjunctiva, and scrotal dermatitis

EGRAC

54
Q

Niacin B3

A

Oxidation and Reduction in TCA and FA synthesis

Animal and legumes. Tryptophan is precursor

Pellagra- dermatitis, demntia, diarrhea, death

Vasodilation and flushing

55
Q

Marasmus

A

wasting of fat and muscle mass; energy deficiency = simple starvation

56
Q

Kwashiorkor

A
  • edematous PEM, no wasting, “protein deficiency”; related to metabolic stress and inflammation

Etiology not understood. Flaky paint, flag sign, and moon facies

57
Q

Ghrelin

A

Growling –> makes you hungry

58
Q

Leptin

A

from adipose tissue. Makes you full.

inhibits NPY/AgRP neurons in arcuate and activates a-MSH/CART neurons

59
Q

Arcuate Nucleus

A
  • Arcuate nucleus- contains first order neurons that promote intake or satiety
    • Neuropeptide Y and agouti related peptide à promote feeding
    • a-MSH (Product of POMC) and Cocaine and amphetamine- related transcript (CART) à promote satiety
60
Q

Paraventricular Nucleus

A

Contains NPY R and MCR.

  • NPYR when stimulated by NPR –> increase food intake and decrease energy expenditure
  • MCR stimulated by aMSH (POMC) but inhibited by AgRP –> decrease food intake and increase energy expenditure.
61
Q

Ventromedial Nucleus

A

Ventromedial nucleus- satiety center; stimulation = cessation of eating even in hungry animals;lesion= eats excessively

62
Q

Lateral Hypothalamus

A
  • Lateral hypothalamus- stimulation = voracious eating; lesions produce aphagia
    • Melanin concentrating hormone and orexins induce feeding
63
Q

Lorcaserin

A
  • Lorcaserin activates POMC (a-MSH/CART) neurons (selective 2 C receptor agonist)
64
Q

Naltrexone

A
  • Opiod agonists have been shown to increase food intake –> Naltexone, opioid receptor blocker, and reduces food intake
65
Q

Phentermine

A

Similar to amphetamine; increase brain NE; no abuse potential. Increases satiety and thereby reduce food intake. Increases BP in 1-2% of individuals taking drug. Contraindication à high blood pressure. FDA only approves use of it for 3 months; longer= “off-label” prescription

66
Q

Orlistat

A
  • Orlistat (Alli-OTC, or Xenical- RRX): Pancreatic lipase inhibitor, blocks absorption. Cost $90-200 per month. No systemic side effects. May have deficiency of fat soluble molecules à recommend taking daily vitamin. DDI: Coumadin and cyclosporine. Prevent diabetes in high risk individuals, improves blood lipids and lowers HbA1C in people with diabetes.
67
Q

Phetermine/Topiramate

A
  • Phetermine/Topiramate (Qsymia): Combination therapy to combat obesity. Topiramate may be terotogenic in women of reproductive age. $150/mo. 10-12% of baseline weight.
68
Q

Naltrexone SR/ Bupropion SR

A
  • Naltrexone SR/ Bupropion SR: Opiod receptor antagonist and DA/NE reuptake inhibitor (typically for depression and smoking cessation). Slightly more effective than phentermine and lorcasirin. Increased risk of suicidal ideation and increase pulse rate.
69
Q

Liraglutude

A
  • Liraglutide: GLP-1 agonist. Recently approved, not available in pharmacies.
70
Q

Iron

A

Oxygen transport in blood and muscle

Heme iron from cellular animal protein, legumes, nuts, and whole grains

Anemia, fatigue, impaired cognitive function, impaired growth.

Pro-oxidant, interfere with zinc and copper

Hereditary Hemochromatosis, bleeding

Microcytic anemia= severe deficiency

71
Q

Zinc

A

Gene expression, membrane stability, metalloenzymes

Animal products

Growth stunting, immune dysfunction, taste impairment

Acrodermatitis Enteropathica: Zn transporter mutation

Low, impair absorption of Fe and Cu

N/V

72
Q

Metabolic Syndrome

A
  • presence carries an increased risk of heart attack and stroke, even if patients does not have hypertension or T2D
    • Abdominal obesity, TG > 150 or on drug treatment for abnormal lipids, HDL cholesterol <40 and 50, high blood pressure >130/85 or on anti-hypertensive drug, fasting glucose greater than 100.

DEMS REVIEW (1 decks)

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