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Module I > Test 2 > Flashcards

Test 2 Flashcards

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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
Lesch-Nyhan syndrome
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
Severe combined immunodeficiency syndrome (SCID)
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
5-fluorouracil (5-FU)
uracil analog that is suicide inhibitor of thymidylate synthase, making it a chemotherapy drug
28
3_ azido-2_3_ dideoxythymine (AZT)
thymine analog that inhibits HIV reverse transcriptase by incorporating into the growing strand and causing chain termination
29
Orotic aciduria
defect in orotate phosphoribosyl transferase, associate with megaloblastic anemia
30
Phenylketonuria (PKU)
deficiency in phenylalanine hydroxylase that breaks down phenylalanine to tyrosine, resulting in high levels of phenylalanine and its downstream products -> hypopigmentation, CNS symptoms
31
Hyperphenylalaninema
may also be caused by deficiencies in any of the several enzymes required to synthesize dihydropbiopterin (BH4) or in dihydropteridine reductase
32
Maple syrup urine disease
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
Albinism
mainly autosomal recessive; absent or defective copper-requiring tyrosinase deficiency -> white hair, pink eyes, hypopigmented pale skin, sensitive to sunlight, impaired vision, photophobia
34
Malignant melanoma
> 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
Homocystinuria
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
Alkaptonuria
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
Viagra
inhibit the cGMP-specific phosphodiesterase-5, which is responsible for the degradation of cGMP (Ca2+/NO/cGMP pathway)
38
Vitamin B6 deficiency
reduced ALA synthase activity -> microcytic hypochromic anemia
39
Lead toxicity
ALA dehydratase and ferrochelatase mainly affected causing ALA and Zn protoporphyrin IX accumulation -> anemia
40
Marasmus
Low calorie and protein intake; less than 60% normal body weight
41
Porphyria Cutanea Tarda
Caused by liver damage (80%) but also uroporphyrinogen decarboxylase defects (autosomal dominant); skin symptoms (b/c accumulation of phorphyrinogens
42
Acute intermittent porphyria
autosomal dominant; porphobilinogen deaminase mutations; only neurological symptoms; ALA and porphobilinogen accumulate in plasma, urine (darkens on standing)
43
Erythropoietic protoporphyria
autosomal dominant; ferrochelatase mutations; mainly skin symptoms; most common erythropoietic type, protoporphyrin accumulates but not in the urine (insoluble)
44
Jaundice
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
Calories for average male and female
male (154 lbs) = 2700 kcal; female (110 lb) = 2000 kcal
46
Body mass index (BMI)
(weight in lbs * 705) / (height in inches squared)
47
Macronutrient (grams/day, %, energy/g)
Carbohydrates: 364g (58-73%) -> 4 kcal/g; Fat: 80g (15-30%) -> 9kcal/g; Protein: 56g (12%) -> 4 kcal/g
48
Essential dietary fatty acids
Linoleic acid (omega 6); alpha-linolenic acid (omega 3)
49
Fiber
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
10 essential dietary amino acids
PVT TIM HALL (tryptophan, threonine, arginine)
51
Osteogenesis imperfecta II, III, IV
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
Osteogenesis imperfecta I
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
Ehlers-Danlos Syndrome
collection of collagen defects in different genes, different inheritance patterns -> stretchy skin, joint hypermobility; type IV (vascular) _ most severe, mutation in COL3A1
54
Marfan syndrome
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
Kidney functions
renin, erythropietin, hydroxylation of vitamin D, kidney stones, urine excretion
56
Liver functions
can regenerate, regulate nitrogen, carbohydrate, lipid metabolism, bile formation, drug and hormone metabolism, plasma protein synthesis
57
Duchene/Becker muscular dystrophy
X-linked recessive; deletion or nonsense mutation in dystrophin gene; 1/3 de novo mutations; frame shift hypothesis
58
Myotonic dystrophy
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
Limb Girdle muscular dystrophy
Mutation in genes for sarcoglycans (transmembrane proteins) and calpain (calcium activated protease) -> wasting of muscles proximal to the shoulders and pelvis
60
Scurvy
lacking vitamin C that is necessary for prolyl hydroxylase and lysyl hydroxylase

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