DEMS IIb Review Flashcards

Question

Lesch Nyhan

Answer 1

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

Answer 2

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

Answer 3

o inhibits AMP synthesis (anti HIV)

Answer 4

o Azidothymidine (AZT) à inhibits viral polymerase

Answer 5

o targets DNA polymerase (anti leukemia)

Answer 6

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

Answer 7

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

Answer 8

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

Answer 9

* 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

Answer 10

* 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

Answer 11

**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**

Answer 12

**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**

Answer 13

**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**

Answer 14

**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**

Answer 15

**Hunter** **Coarse facies, airway disease, ear infections, hoarse voice, no corneal clouding** **Hepatosplenomegaly; short stature** **Iduronate sulfatase** **Idursulfase** **X linked recessive;male**

Answer 16

**Hurler** **Coarse facies, airway disease, ear infections, hoarse voice, corneal clouding, hearing loss** **Hepatosplenomegaly, short stature** **Alpha iduronidase** **Iaronidase** **AR, girl**

Answer 17

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

Answer 18

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

Answer 19

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

Answer 20

**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**

Answer 21

**Hormone, Ca++ homeostasis, innate immunity, and cell growth and differentiation** **Precursor in skin, animal and plant sources** **Rickets** **hypercalcemia** **Serum 25OH Vit D**

Answer 22

**Antioxidant, free radical scavenger, cell membrane stabilizer** **Polyunsaturated vegetable oils, wheat germ** **Neurologic degeneration, hemolytic anemia** **Low; coagulopathy**

Answer 23

**Carboxylation of coagulation proteins** **Leafy vegetables, fruits, seeds, synthesized by intestinal bacteria** **Hemorrhagic disease of newborn, purpura** **Newborns should receive single IM dose**

Answer 24

**1-carbon transfers** **foliage** **Macrocytic anemia, increases homocysteine NTD, glossitis** **RBD folate for tissue storesV**

Answer 25

**AA metabolism** **Animal products, vegetables, whole grain** **Anemia, glossitis, seizures** **Ataxia/ impaired position/vibratory sensation** **Pyridoxal phosphate, homocysteine** Also CBS cofactor

Answer 26

**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**

Answer 27

**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**

Answer 28

**Coenzyme to metabolism** **Whole grains, lean pork, legumes** **Ber1ber1- wet and dry, Wernicke Korsakofff** **Erythrocyte transketolase activity; blood thiamine levels**

Answer 29

**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**

Answer 30

**Oxidation and Reduction in TCA and FA synthesis** **Animal and legumes. Tryptophan is precursor** **Pellagra- dermatitis, demntia, diarrhea, death** **Vasodilation and flushing**

Answer 31

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

Answer 32

* edematous PEM, no wasting, “protein deficiency”; related to metabolic stress and inflammation Etiology not understood. Flaky paint, flag sign, and moon facies

Answer 33

Growling --\> makes you hungry

Answer 34

from adipose tissue. Makes you full. inhibits NPY/AgRP neurons in arcuate and activates a-MSH/CART neurons

Answer 35

* 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

Answer 36

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.

Answer 37

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

Answer 38

* Lateral hypothalamus- stimulation = voracious eating; lesions produce aphagia * Melanin concentrating hormone and orexins induce feeding

Answer 39

* Lorcaserin activates POMC (a-MSH/CART) neurons (selective 2 C receptor agonist)

Answer 40

* Opiod agonists have been shown to increase food intake --\> Naltexone, opioid receptor blocker, and reduces food intake

Answer 41

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

Answer 42

* **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.

Answer 43

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

Answer 44

* **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.

Answer 45

* **Liraglutide:** GLP-1 agonist. Recently approved, not available in pharmacies.

Answer 46

**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**

Answer 47

**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**

Answer 48

* 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.