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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
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

Shelf Review T1 (6 decks)

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