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Shelf Review T1 > Biochemistry Diseases > Flashcards

Biochemistry Diseases Flashcards

1
Q

Kwashiorkor

A

diet adequate in calories but LOW in PROTEINS

  1. low serum albumin levels
  2. malabsorption
  3. hepatomegaly and distended abdomen
  4. bloating
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2
Q

marasmus

A

diet low in BOTH protein and calories

starvation –> death

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3
Q

cystic fibrosis

A

defect in CFTR channel

can’t reabsorb excess Cl- anions

causes diarrhea

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4
Q

cholera

A

opens CFTR channel (via cAMP)

efflux of Cl- and water into intestines

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5
Q

maple syrup urine disease

A

defect in ketoacid transamidase (catabolism in branched chain aas)

Val, Leu, and Ile increased in urine

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6
Q

PKU

A

(-) phenylalanine hydroxylase

or

(-) BH4 synthesis (cofactor)

can’t degrade Phe –> Tyrosine
- mental retardation since Tyrosine is needed to make catecholamines

Tx = Kuvan

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7
Q

cystinuria

A

defect in Cys reabsorption in kidneys and small intestines

calcali in urine, kidneys, and bladder

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8
Q

Kuru

A

prion disease due to new guinea cannibalism

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9
Q

sickle cell anemia

A

mutation in beta chain in Hgb

glutamate –> valine (negative –> hydrophobic)

RBCs have sickle cell shape (hemolysis and anemia)

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10
Q

carbon monoxide poisoning

A

tight binding of CO to iron in heme

230X grater than O2 affinity for heme

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11
Q

Ehlers-Danlos Syndrome

A

mutation in synthesis and processing of collagen

abnormalities of skin, ligaments, and organs

skin = fragile and stretches easily

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12
Q

osteogenesis imperfecta

A

type I collagen genes

bones fragile, easily fracture

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13
Q

scurvy

A

vitamin C deficiency –> hydroxylation of proline residues is decreased and unstable form of collagen made

bones, teeth, BVs develope abnormally

bleeding gums and poor wound healing

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14
Q

marfans

A

fibrillin

tall stature with arachnodactyly

mitral valve prolapse

lens dislocation

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15
Q

alport syndrome

A

type IV collagen

meshlike collagen network in kidney…cells cannot form and filter waste from blood

leads to kidney failure

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16
Q

hereditary spherocytosis

A

mutations in RBC membrane proteins (spectrin and ankyrin)

hemolytic anemia

splenomegaly

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17
Q

familial hypertrophic cardiomyopathy

A

mutation in beta-myosin heavy chain of sacromere proteins

thickening of heart muscle

sudden death under exercising conditions

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18
Q

emphysea and liver damage

A

A1-antitrypsin (inhibits elastase action in lungs)

elastase can destroy lungs

accumulation of defective A1-AT damages liver tissue

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19
Q

UV light

A

makes pyrimidine dimers in DNA

very pronounced in xeroderma pigmentosum (XP) because their DNA repair system does not work (defect in NER)

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20
Q

Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome

A

autosomal dominant

mutation in MLH1 and MLH2 (mismatch excision repair)

risk for cancer goes way up

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21
Q

Bloom-Torre-Machacek syndrome

A

mutation in helicase

short stature, and risk for cancer and DNA instability

autosomal recessive

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22
Q

Cockayne syndrome

A

mutation in transcription-couple DNA repair

premature aging

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23
Q

Chronic myeloid leukemia (CML)

A

due to philadelphia chromosome (translocation between 9 and 22) –> bcr-abl

bcr-abl kinase = oncoprotein kinase

Treatment = imantinib = inhibits this enzyme

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24
Q

alpha-amanitin

A

death cap mushroom

inhibits eukaryotic RNAp (especially RNA Poly III)
- binds to backside and inhibits synthesis

causes GI problems

then death

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25
Q

Hemoglobin C

A

poitin mutation in beat-globin chain in Hgb

mild anemia

no sickling

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26
Q

beta-thalassemia

A

excess in alpha subunits in heme

decrease in Hgb A
increase in Hbg A2

anemia and cells appear hypochromic

Beta+ mutation = reduced expression of beta-globin

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27
Q

Cooleys anemia

A

absence of beta globin

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28
Q

alpha thalassemia

A

excess in beta subunits in heme

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29
Q

Ricin (castor beans)

A

inhibits protein synthesis by acting like N-glucosidase

depurinates adenine bases in 28rRNA –> which then degrades

inhibition of translation

symptoms:
abdominal pain and vomiting
bloody stool

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30
Q

Rett syndrome

A

mutation in MECP2 (codes for methylated DNA binding protein in brain which recruits HDACs)

loss of communication and use of hands

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31
Q

muscular dystrophy

A

lots of different types due to mutations on dystrophin locus (Iongest gene)

Duchenne = lack of dystrophin; survival rare past 30

Becker = low expression

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32
Q

Burkitt Lymphoma

A

non-Hodgkin’s

translocation of protooncogene = Myc

usually chromosome 8 or 14

Myc inappropriately expressed in cell cycle –> inappropriate cell growth

  • one form linked to Epstein-Barr Virus
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33
Q

Wilm’s Tumor

A

loss of function of WT1

mutated zinc-finger transcription factor

solid abdominal tumor in children (90% of kidney cancer)

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34
Q

Myotonic dystrophy

A

DMPK gene

repeated CTG repeats (more = more severe)

continuous firing of musclees

cardiac problems

insulin resistance

myotonia

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35
Q

leukoencephalopathy with CNS hypomyelination and Vanishing white matter

A

missense mutation in eIF2

seizures and degeneration of white matter

recall eIF2 mediates formation of preinitiation complex

also plays role in cell stress response

glial cell death, loss of myelin sheath, neurological deterioration

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36
Q

Alzheimers

A

due to PSEN1 or PSEN2 mutation

beta amyloid plaques and intracellular neurofibrillary tangles

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37
Q

huntington’s disease

A

CAG repeats in ORF (>40)

= HTT misfolds –> mHTT

interfere with NT release –> neuronal cell death

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38
Q

parkinson’s

A

aggregates of misfolded alpha-synuclein –> aggregates

= Lewy bodies

death of dopaminergic neurons

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39
Q

ALS (lou gehrigs)

A

superoxide dismutase protein (SOD1)

misfolds and aggregates

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40
Q

spinal cerebellar ataxia

A

ataxin with CAG repeats

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41
Q

mucopolysaccharidoses (MPS)

A

deficiency of enzymes that catabolize GAGs

accumulate GAGs in various tissues

42
Q

Icell disease

A

problem targeting lysosomal proteins to organelles

missing mannose-6-phosphate signal (M6P)

43
Q

Spingolipidoses (GSL storage disease)

A

excessive accumulation og GSL in lysosomes

caused by impaired lysosomal degradation of specifc GSL

44
Q

Fabry disease

A

mutation in alpha-galactosidase A

Gb3 increases

45
Q

Gaucher’s disease

A

(-) glucocerebrosidase A

GlcCer increases

treatment = Cerezyme

46
Q

Krabbe disease = globoid cell leukodystrophy

A

(-) galactocerebrosidase (GALC)

***no rise in GalCer …. but rise in psychosine

severe demyelination of CNS and PNS

47
Q

Tay Sachs

A

(-) hexoaminidase

GalNAc accumulates

48
Q

Niemann Pick diseaes

A

sphingomyelinase

49
Q

MERRF

mitochondria epilepsy with ragged red fibers

A

ragged red fibers…

50
Q

Zellweger Syndrome

A

peroxisomes not produced properly

VLCFA aummulate
- bile acid and plasmalogen synthesis affected –> large liver

myelin structure altered due to accumulation of FAs (especially Phytanic acid)

51
Q

androgen insensitivity

A

mutated androgen receptor

can’t respond to androgens

ambiguous genitalia

52
Q

myasthenia gravis (autoimmune)

A

antibodies against ACh receptor

muscle fatigue

53
Q

Severe combined immunodeficiency, SCID

A

Adenosine deaminase (ADA) deficiency

–> high levels of dATP –> no DNA synthesis

affects T and B cells

54
Q

whooping cough (bordatella pertussis)

A

toxin ADP-ribosylates a G-alpha-i subunit (inhibitory)

continually active signal in lung cells

increased PKA –> activates CFTR –> fluid loss as mucus into lungs

55
Q

breast cancer

A

mutation in BRCA1 or BRCA2

treatment = tamoxifen

or Herceptin for HER2 cancers

56
Q
  • vitamin A
A

night blindness

xerophthalmia

57
Q
  • vitamin D
A

inadequate bone mineralization

rickets

osteomalcia

58
Q
  • vitamin E
A

reproductive failure

muscular dystrophy

neuro

59
Q
  • vitamin K
A

defective blood clotting

60
Q
  • thiamine
A

beriberi

wernicke-korsakoff

61
Q
  • riboflavin
A

oral-buccal cavity lesions

62
Q
  • niacin
A

pellagra

63
Q
  • B6 (PLP)
A

convulsions

dermiatitis

anemia

64
Q
  • folate
A

megaloblastic anemia

65
Q
  • B12
A

pernicious anemia

neuro

66
Q
  • biotin
A

scaly dermitis

anorexia

67
Q
  • panthothenic acid
A

listlessness

fatigue

burning feet syndrome

68
Q

arsenic poisoning

A

inhibits enzymes/cofcators with free sulfhydryl groups

like….

lipod acid (PPP)
pyruvate DH (PDH)
alpha-KG DH (CAC)
69
Q

cyanide poisoning

A

cyanide binding to Fe3+ in cytochrome aa3

O2 can’t receive e-respiration inhibited energy production stops

death

70
Q

Leigh’s disease

subacute necrotizing encephalopathy

A

mutations in PDH complex - usually E1

71
Q

hunter syndrome

mucopolysaccharidose

A
  • iduronate sulfatase

buildup of DS and HS in lysosome

72
Q

hurler syndrome

mucopolysaccharidose

A
  • alpha-L-iduronsidase

buildup in DS and HS in lysosome

73
Q

sanfillippo syndrome

mucopolysaccharidose

A

HS buildup

74
Q

hemolytic anemia

A
  • in PK or G6PDH (no NADPH)

usually benign unless have a hemolytic crisis

(need to convert more 1,3 BPG –> 2,3 BPG)

75
Q

fructosuria

A

fructokinase

benign

76
Q

fructosemia (fructose intolerance)

A

fructose-1-P aldolase (aldolase B)

severe hypoglycemia

77
Q

galactosemia

A

galactokinase

cataracts

78
Q

classic galactosemia

A

galactose-1P uridyly transferase

liver damage - hypoglycemia

79
Q

tangier disease

A

ABC1 protein

HDL particles are choletserol poor –> reduced level of HDL in circulation

leads to premature CHD

80
Q

familial hypercholesterolemia

A

LDL receptors

xanthomas, CAD

81
Q

hypertriglyceridemia

A

(-) LDL or ApoC (Activates lipoprotein lipase)

high TG due to decreased degradation of VLDL and chylomicrons

seen in diabetes

82
Q

carnitine deficiency (primary)

A

CAT1 or CAT2

can’t transport carnitine into cells that need it

reduced FA oxidation

can cause hypoketotic hypoglycemia
- low ketone bodies; low gluconeogenesis so low BG

83
Q

carnitine deficiency (secondary)

A

liver disease, malnutrition, vegan

accumulation of acylcarnitine derivatives = toxic

cardiac arrest

84
Q

MCADD (medium chain acyl-CoA DH deficiency)

A

prevents use of FAs as fuels

hypoglycemia

85
Q

Hartnup disease

A

transport of neutral AAs defective

deficiency of essential aa

leads to a niacin deficiency (made from tryptophan)

86
Q

homocystinuria

A

cystathionine synthase (so HC + serine –> cystein doesn’t work)

treatment with increased vitamin B6 (PLP) = cofactor

associated with CAD

87
Q

alcaptonuria

A

homogenistate oxidase

degenerative arthritis

88
Q

tyrosinemia type I

A

fumaryl=acetoacetate hydrolase

accumulation of gumarylacetoacetate –> liver and kidney failure

cabbage urine odor

89
Q

tyrosinemia type II

A

tyrosine aminotransferase

eyes, skin, mental development

90
Q

albinism

A

tyrosinase - so tyrosine cannot be converted to melanin

91
Q

Lesch-Nyhan syndrome

A

hypoxanthine guanine phosphoribosyltransferase (HGPRT)

purine bases can’t be salvaged - converted to uric acid instead –> gout

self-mutiliation!!!!

92
Q

gout

A

underexcretion (primary cause) or overproduction of uric acid

93
Q

orotic acidemia

A

UMP synthetase

orotate phosphoribosyl transferase
oridine phosphate decarboxylase

pyrimidines cannot be made
growth retardation
treat with uridine

94
Q

lead poisoning

A

inhibits step 2 and last step of heme production

heme production decreased– > anemia

95
Q

porphyria

A

deficiency in enzyme of heme production

neuropsychiatric symptoms due to accumulation of intermediates

photosensitivity due to accumulation of porphyrinogens which react with light to produce ROS

96
Q

congenital adrenal hyperplasia

A
  1. 21alpha-hydroxylase (most common)
    - excess androgens
  2. 11beta
    - androgens in excess (low renin-HTN)
  3. 17alph
    - MRs in excess
97
Q

Von Gierkes

A

glycogen storage disease

glucose 6 phosphatase

enlarged liver
hypoglycemia

98
Q

Hers disease

A

glycogen storage disease

liver phosphorylase

can’t convery glycogen –> BG

99
Q

pompe disease

A

glycogen storage disease

lysosomal glucosidase

glycogen accumulates in liver

100
Q

McArdle disease

A

glycogen storage disease

muscle phosphorylase

virgorous exercise –> fatigue

Shelf Review T1 (6 decks)

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