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Flashcards in Biochemistry Diseases Deck (100):
1

Kwashiorkor

diet adequate in calories but LOW in PROTEINS

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

2

marasmus

diet low in BOTH protein and calories

starvation --> death

3

cystic fibrosis

defect in CFTR channel

can't reabsorb excess Cl- anions

causes diarrhea

4

cholera

opens CFTR channel (via cAMP)

efflux of Cl- and water into intestines

5

maple syrup urine disease

defect in ketoacid transamidase (catabolism in branched chain aas)

Val, Leu, and Ile increased in urine

6

PKU

(-) phenylalanine hydroxylase

or

(-) BH4 synthesis (cofactor)

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

Tx = Kuvan

7

cystinuria

defect in Cys reabsorption in kidneys and small intestines

calcali in urine, kidneys, and bladder

8

Kuru

prion disease due to new guinea cannibalism

9

sickle cell anemia

mutation in beta chain in Hgb

glutamate --> valine (negative --> hydrophobic)

RBCs have sickle cell shape (hemolysis and anemia)

10

carbon monoxide poisoning

tight binding of CO to iron in heme

(230X grater than O2 affinity for heme)

11

Ehlers-Danlos Syndrome

mutation in synthesis and processing of collagen

abnormalities of skin, ligaments, and organs

skin = fragile and stretches easily

12

osteogenesis imperfecta

type I collagen genes

bones fragile, easily fracture

13

scurvy

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

14

marfans

fibrillin

tall stature with arachnodactyly

mitral valve prolapse

lens dislocation

15

alport syndrome

type IV collagen

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

leads to kidney failure

16

hereditary spherocytosis

mutations in RBC membrane proteins (spectrin and ankyrin)

hemolytic anemia

splenomegaly

17

familial hypertrophic cardiomyopathy

mutation in beta-myosin heavy chain of sacromere proteins

thickening of heart muscle

sudden death under exercising conditions

18

emphysea and liver damage

A1-antitrypsin (inhibits elastase action in lungs)

elastase can destroy lungs

accumulation of defective A1-AT damages liver tissue

19

UV light

makes pyrimidine dimers in DNA

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

20

Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome

autosomal dominant

mutation in MLH1 and MLH2 (mismatch excision repair)

risk for cancer goes way up

21

Bloom-Torre-Machacek syndrome

mutation in helicase

short stature, and risk for cancer and DNA instability

autosomal recessive

22

Cockayne syndrome

mutation in transcription-couple DNA repair

premature aging

23

Chronic myeloid leukemia (CML)

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

bcr-abl kinase = oncoprotein kinase

Treatment = imantinib = inhibits this enzyme

24

alpha-amanitin

death cap mushroom

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

causes GI problems

then death

25

Hemoglobin C

poitin mutation in beat-globin chain in Hgb

mild anemia

no sickling

26

beta-thalassemia

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

27

Cooleys anemia

absence of beta globin

28

alpha thalassemia

excess in beta subunits in heme

29

Ricin (castor beans)

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

30

Rett syndrome

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

loss of communication and use of hands

31

muscular dystrophy

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

Duchenne = lack of dystrophin; survival rare past 30

Becker = low expression

32

Burkitt Lymphoma

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

33

Wilm's Tumor

loss of function of WT1

mutated zinc-finger transcription factor

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

34

Myotonic dystrophy

DMPK gene

repeated CTG repeats (more = more severe)

continuous firing of musclees

cardiac problems

insulin resistance

myotonia

35

leukoencephalopathy with CNS hypomyelination and Vanishing white matter

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

36

Alzheimers

due to PSEN1 or PSEN2 mutation

beta amyloid plaques and intracellular neurofibrillary tangles

37

huntington's disease

CAG repeats in ORF (>40)

= HTT misfolds --> mHTT

interfere with NT release --> neuronal cell death

38

parkinson's

aggregates of misfolded alpha-synuclein --> aggregates

= Lewy bodies

death of dopaminergic neurons

39

ALS (lou gehrigs)

superoxide dismutase protein (SOD1)

misfolds and aggregates

40

spinal cerebellar ataxia

ataxin with CAG repeats

41

mucopolysaccharidoses (MPS)

deficiency of enzymes that catabolize GAGs

accumulate GAGs in various tissues

42

Icell disease

problem targeting lysosomal proteins to organelles

missing mannose-6-phosphate signal (M6P)

43

Spingolipidoses (GSL storage disease)

excessive accumulation og GSL in lysosomes

caused by impaired lysosomal degradation of specifc GSL

44

Fabry disease

mutation in alpha-galactosidase A

Gb3 increases

45

Gaucher's disease

(-) glucocerebrosidase A

GlcCer increases

treatment = Cerezyme

46

Krabbe disease = globoid cell leukodystrophy

(-) galactocerebrosidase (GALC)

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

severe demyelination of CNS and PNS

47

Tay Sachs

(-) hexoaminidase

GalNAc accumulates

48

Niemann Pick diseaes

sphingomyelinase

49

MERRF

mitochondria epilepsy with ragged red fibers

ragged red fibers...

50

Zellweger Syndrome

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

androgen insensitivity

mutated androgen receptor

can't respond to androgens

ambiguous genitalia

52

myasthenia gravis (autoimmune)

antibodies against ACh receptor

muscle fatigue

53

Severe combined immunodeficiency, SCID

Adenosine deaminase (ADA) deficiency

--> high levels of dATP --> no DNA synthesis

affects T and B cells

54

whooping cough (bordatella pertussis)

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

breast cancer

mutation in BRCA1 or BRCA2

treatment = tamoxifen

or Herceptin for HER2 cancers

56

- vitamin A

night blindness

xerophthalmia

57

- vitamin D

inadequate bone mineralization

rickets

osteomalcia

58

- vitamin E

reproductive failure

muscular dystrophy

neuro

59

- vitamin K

defective blood clotting

60

- thiamine

beriberi

wernicke-korsakoff

61

- riboflavin

oral-buccal cavity lesions

62

- niacin

pellagra

63

- B6 (PLP)

convulsions

dermiatitis

anemia

64

- folate

megaloblastic anemia

65

- B12

pernicious anemia

neuro

66

- biotin

scaly dermitis

anorexia

67

- panthothenic acid

listlessness

fatigue

burning feet syndrome

68

arsenic poisoning

inhibits enzymes/cofcators with free sulfhydryl groups

like....

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

69

cyanide poisoning

cyanide binding to Fe3+ in cytochrome aa3

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

death

70

Leigh's disease

subacute necrotizing encephalopathy

mutations in PDH complex - usually E1

71

hunter syndrome

mucopolysaccharidose

- iduronate sulfatase

buildup of DS and HS in lysosome

72

hurler syndrome

mucopolysaccharidose

- alpha-L-iduronsidase

buildup in DS and HS in lysosome

73

sanfillippo syndrome

mucopolysaccharidose

HS buildup

74

hemolytic anemia

- in PK or G6PDH (no NADPH)

usually benign unless have a hemolytic crisis

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

75

fructosuria

fructokinase

benign

76

fructosemia (fructose intolerance)

fructose-1-P aldolase (aldolase B)

severe hypoglycemia

77

galactosemia

galactokinase

cataracts

78

classic galactosemia

galactose-1P uridyly transferase

liver damage - hypoglycemia

79

tangier disease

ABC1 protein

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

leads to premature CHD

80

familial hypercholesterolemia

LDL receptors

xanthomas, CAD

81

hypertriglyceridemia

(-) LDL or ApoC (Activates lipoprotein lipase)

high TG due to decreased degradation of VLDL and chylomicrons

seen in diabetes

82

carnitine deficiency (primary)

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

carnitine deficiency (secondary)

liver disease, malnutrition, vegan

accumulation of acylcarnitine derivatives = toxic

cardiac arrest

84

MCADD (medium chain acyl-CoA DH deficiency)

prevents use of FAs as fuels

hypoglycemia

85

Hartnup disease

transport of neutral AAs defective

deficiency of essential aa

leads to a niacin deficiency (made from tryptophan)

86

homocystinuria

cystathionine synthase (so HC + serine --> cystein doesn't work)

treatment with increased vitamin B6 (PLP) = cofactor

associated with CAD

87

alcaptonuria

homogenistate oxidase

degenerative arthritis

88

tyrosinemia type I

fumaryl=acetoacetate hydrolase

accumulation of gumarylacetoacetate --> liver and kidney failure

cabbage urine odor

89

tyrosinemia type II

tyrosine aminotransferase

eyes, skin, mental development

90

albinism

tyrosinase - so tyrosine cannot be converted to melanin

91

Lesch-Nyhan syndrome

hypoxanthine guanine phosphoribosyltransferase (HGPRT)

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

self-mutiliation!!!!

92

gout

underexcretion (primary cause) or overproduction of uric acid

93

orotic acidemia

UMP synthetase

orotate phosphoribosyl transferase
oridine phosphate decarboxylase

pyrimidines cannot be made
growth retardation
treat with uridine

94

lead poisoning

inhibits step 2 and last step of heme production

heme production decreased-- > anemia

95

porphyria

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

congenital adrenal hyperplasia

1. 21alpha-hydroxylase (most common)
- excess androgens

2. 11beta
- androgens in excess (low renin-HTN)

3. 17alph
- MRs in excess

97

Von Gierkes

glycogen storage disease

glucose 6 phosphatase

enlarged liver
hypoglycemia

98

Hers disease

glycogen storage disease

liver phosphorylase

can't convery glycogen --> BG

99

pompe disease

glycogen storage disease

lysosomal glucosidase

glycogen accumulates in liver

100

McArdle disease

glycogen storage disease

muscle phosphorylase

virgorous exercise --> fatigue