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Module I > Test 2 > Flashcards

Test 2 Flashcards

1
Q

Phospholipase A2

A

Acts on C-2 ester bonds; when acting on phosphatidylinositol, releases arachidonic acid; secreted by pancreas; activity inhibited by glucocorticoids

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2
Q

Phospholipase C

A

Acts on C-3 ester bond (phosphate bond); found in liver lysosomes and the alpha-toxin of clostridia and other bacilli; activation of membrane phospholipase C activates the PIP2 system

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3
Q

Nieman-pick disease

A

defect in sphingomyelinase leading to accumulation of sphingomyelin; neurodegenerative course

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4
Q

Tay-Sachs disease

A

defect in B-hexosaminidase A leading to accumulation of gangliosides; rapid and progressive neurodegeneration, blindess, cherry-red macula

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5
Q

Gaucher disease

A

most common lysosomal storage disease (Ashkenazi Jews), defect in B-glucocerebrosidase leading to accumulation of glucocerebrosides; hepatosplenomegaly, osteoporosis in long bones; treatable by injection of the enzyme

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6
Q

Zetia (ezetimibe)

A

acts at small intestine by inhibiting absorption of cholesterol; drug does not enter the bloodstream, block triglycerides or fat-soluble vitamins -> no side effects

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7
Q

Familial hypercholesterolemia

A

autosomal dominant; mutation in gene encoding for LDL receptor leading to elevated total cholesterol

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8
Q

LDL receptor class 1 mutation

A

mutation in LDLR promoter (frameshift or splicing) -> no receptors synthesized

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9
Q

LDL receptor class 2 mutation

A

receptors synthesized but retained in ER or Golgi

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10
Q

LDL receptor class 3 mutation

A

receptors reach the cell surface but lack normal LDL binding

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11
Q

LDL receptor class 4 mutation

A

receptors reach the cell surface and bind LDL but are not clustered in coated pits and endocytosed

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12
Q

Cystinuria

A

autosomal recessive; in the kidney, transporter for cystine, ornithine, arginine, lysine (COAL) is defective; all amino acids are present in the urine and cystine precipitates in the acidic urine forming stones

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13
Q

Hartnup disorder

A

defective tryptophan absorption causing pellagra-like symptoms (3Ds: dermatitis, diarrhea, dementia in the skin, GI tract, and CNS) as a result of the need for tryptophan and niacin in NAD+ and NADP+ synthesis

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14
Q

Protein malnutrition (Kwashiorkor)

A

Enough calories, lack protein; failure to gain weight, stunted linear growth, swollen abdomen, skin pigmentation, reddish pigmentation of hair

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15
Q

Increased D-amino acid oxidase (DAO) activity

A

D-serine is important for NMDA transmission, synaptic plasticity, and development; increased DAO activity catalyzes oxidative deamination of D-amino acids and has been linked to schizophrenia, aging, and neurodegeneration

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16
Q

N-acetylglutamate synthetase (NAGS) deficiency

A

autosomal recessive; too few cases

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17
Q

carbamoyl phosphate synthetase 1 (CPS1) deficiency

A

autosomal recessive; develops as early as first day of life; majority die in the neonatal period

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18
Q

ornithine transcarbamoylase (OTC) deficiency

A

X-linked recessive; most common, causes accumulation of carbamoyl phosphate that can enter the cytosol and participate in pyrimidine synthesis, increasing orotic acid

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19
Q

argininosuccinate synthetase (ASS) deficiency

A

autosomal recessive; results in citrullinemia, onset between 24-72 hours of life

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20
Q

argininesuccinate lyase (ASL) deficiency

A

autosomal recessive; 2nd most common urea cycle disorder, leads to argininosuccinic aciduria and abnormally fragile hair

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21
Q

arginase (A1) deficiency

A

autosomal recessive; rarest UCD, results in argininemia and usually asymptomatic but can suffer progressive spastic diplegia or quadriplegia, intellectual impairment, recurrent vomiting, delay growth, and seizures

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22
Q

Hyperammonemia treatment

A

Sodium benzoate (glycine), sodium phenylacetate and phenylbutyrate (glutamine), lactulose, arginine and citrulline for deficiencies

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23
Q

Gout

A

results from hyperuricemia caused by decreased uric acid excretion (~80% cases) or increased uric acid production (~20%, loss regulation of PRPP synthase, amidophosphoribosyl transferase, HG-PRT)

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24
Q

Allopurinol

A

competitive inhibitor that blocks xanthine oxidase causing a decrease in urate, PRPP and increases xanthine & hypoxanthine

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25
Q

Lesch-Nyhan syndrome

A

X-linked recessive mutation in the HGPRT gene which causes decreased IMP & GMP and increased PRPP & de novo purine pathway ; self-injury, cognitive dysfunction

26
Q

Severe combined immunodeficiency syndrome (SCID)

A

autosomal recessive disorder with a mutation in adenosine deaminase (ADA), preventing adenosine from being converted to inosine. dATP is toxic and causes T and B cell numbers to be reduced.

27
Q

5-fluorouracil (5-FU)

A

uracil analog that is suicide inhibitor of thymidylate synthase, making it a chemotherapy drug

28
Q

3_ azido-23 dideoxythymine (AZT)

A

thymine analog that inhibits HIV reverse transcriptase by incorporating into the growing strand and causing chain termination

29
Q

Orotic aciduria

A

defect in orotate phosphoribosyl transferase, associate with megaloblastic anemia

30
Q

Phenylketonuria (PKU)

A

deficiency in phenylalanine hydroxylase that breaks down phenylalanine to tyrosine, resulting in high levels of phenylalanine and its downstream products -> hypopigmentation, CNS symptoms

31
Q

Hyperphenylalaninema

A

may also be caused by deficiencies in any of the several enzymes required to synthesize dihydropbiopterin (BH4) or in dihydropteridine reductase

32
Q

Maple syrup urine disease

A

Autosomal recessive; deficiency in the mitochondrial branched chain alpha-keto acid dehydrogenase that oxidatively decarboxylates Leu, Ile, and Val causing maple syrup odor in the urine, ketoacidosis

33
Q

Albinism

A

mainly autosomal recessive; absent or defective copper-requiring tyrosinase deficiency -> white hair, pink eyes, hypopigmented pale skin, sensitive to sunlight, impaired vision, photophobia

34
Q

Malignant melanoma

A

> 40% caused by mutation in B-Raf gene (V600) in the Ras/MAP kinase pathway; sabrafenib for B-Raf and trametinib for MEK combination therapy recently approved

35
Q

Homocystinuria

A

defects in metabolism of homocysteine, mainly cystathionine B-synthase leading to high plasma and urinary levels of homocysteine and methionine -> cadiovascular disease mortality, lens dislocations, skeletal abnormalities, intellectual disability

36
Q

Alkaptonuria

A

deficiency in homogentisic acid oxidase, resulting in accumulation of homogentistic acids (HA), an intermediate in degradative pathway of tyrosine -> homogentistic aciduria (urine oxides to dark pigment), large joint arthritis, deposition of black pigment in cartilage and collagenous tissue

37
Q

Viagra

A

inhibit the cGMP-specific phosphodiesterase-5, which is responsible for the degradation of cGMP (Ca2+/NO/cGMP pathway)

38
Q

Vitamin B6 deficiency

A

reduced ALA synthase activity -> microcytic hypochromic anemia

39
Q

Lead toxicity

A

ALA dehydratase and ferrochelatase mainly affected causing ALA and Zn protoporphyrin IX accumulation -> anemia

40
Q

Marasmus

A

Low calorie and protein intake; less than 60% normal body weight

41
Q

Porphyria Cutanea Tarda

A

Caused by liver damage (80%) but also uroporphyrinogen decarboxylase defects (autosomal dominant); skin symptoms (b/c accumulation of phorphyrinogens

42
Q

Acute intermittent porphyria

A

autosomal dominant; porphobilinogen deaminase mutations; only neurological symptoms; ALA and porphobilinogen accumulate in plasma, urine (darkens on standing)

43
Q

Erythropoietic protoporphyria

A

autosomal dominant; ferrochelatase mutations; mainly skin symptoms; most common erythropoietic type, protoporphyrin accumulates but not in the urine (insoluble)

44
Q

Jaundice

A

problem with liver, gallbladder or pancreas resulting in hyperbilirubinemia; can be pre-hepatic (RBC lysis), hepatic (impaired bilirubin conjugation, its transport, or both), post-hepatic (block conjugated bilirubin from entering the intestines

45
Q

Calories for average male and female

A

male (154 lbs) = 2700 kcal; female (110 lb) = 2000 kcal

46
Q

Body mass index (BMI)

A

(weight in lbs * 705) / (height in inches squared)

47
Q

Macronutrient (grams/day, %, energy/g)

A

Carbohydrates: 364g (58-73%) -> 4 kcal/g; Fat: 80g (15-30%) -> 9kcal/g; Protein: 56g (12%) -> 4 kcal/g

48
Q

Essential dietary fatty acids

A

Linoleic acid (omega 6); alpha-linolenic acid (omega 3)

49
Q

Fiber

A

polysaccharides (not used by enzymes = cellulose, hemicellulose, pectin) + nondigestible polymers (lignin); increases bowel motility, bind toxins, decreases diverticulosis and colon cancer but may bind to trace elements and decrease absorption of fat-soluble vitamins

50
Q

10 essential dietary amino acids

A

PVT TIM HALL (tryptophan, threonine, arginine)

51
Q

Osteogenesis imperfecta II, III, IV

A

autosomal dominant; subsitutions in COL1A1 and COL1A2 that results in the change from Gly into another amino acid with a bulky side chain in type I collagen, preventing correct folding into the triple helix

52
Q

Osteogenesis imperfecta I

A

autosomal dominant; nonsense mutation or splice site mutation results in non-sense mediated decay of mRNA so no procollagen is made from the defective gene

53
Q

Ehlers-Danlos Syndrome

A

collection of collagen defects in different genes, different inheritance patterns -> stretchy skin, joint hypermobility; type IV (vascular) _ most severe, mutation in COL3A1

54
Q

Marfan syndrome

A

autosomal dominant mutation in FBN1 gene (fibrillin); without structural support provided by fibrillin, many tissues are weakened, long limbs, pectus excavatum (cave in), dilation of aorta, tall

55
Q

Kidney functions

A

renin, erythropietin, hydroxylation of vitamin D, kidney stones, urine excretion

56
Q

Liver functions

A

can regenerate, regulate nitrogen, carbohydrate, lipid metabolism, bile formation, drug and hormone metabolism, plasma protein synthesis

57
Q

Duchene/Becker muscular dystrophy

A

X-linked recessive; deletion or nonsense mutation in dystrophin gene; 1/3 de novo mutations; frame shift hypothesis

58
Q

Myotonic dystrophy

A

autosomal dominant; repeated CTG in 3’ UTR of DM-1 or CCTG repeats in 1st intron of DM-2; gain of function toxic mRNA; 40 repeats has symptoms; anticipation

59
Q

Limb Girdle muscular dystrophy

A

Mutation in genes for sarcoglycans (transmembrane proteins) and calpain (calcium activated protease) -> wasting of muscles proximal to the shoulders and pelvis

60
Q

Scurvy

A

lacking vitamin C that is necessary for prolyl hydroxylase and lysyl hydroxylase

Module I (9 decks)

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