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Biochem Flashcards

1
Q

Orotic aciduria

A

Inability to convert orotic acid –> UMP (pyrimidine synthesis)

Sx: Inc orotic acid in urine
megaloblastic anemia (does NOT improve w/ B12)
NO hyperammonemia (vs. OTC)
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2
Q

Adenosine deaminase deficiency

A

AR

Accumulation of adenosine, ATP, dATP
dATP inhibits Ribonucleotide reductase –> inhibits DNA synthesis –> dysfxn T & B-cells

SCID

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3
Q

SELF-MUTILATION
Gout
Choreoathetosis
Retardation

A

Lesch-Nyan syndrome

  • HGPRT deficiency
  • Guanine & hypoxanthine can’t –> GMP & IMP = Gets degraded to uric acid –> hyperuricemia
  • Excess IMP & GMP –> excess purines –> CNS damage
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4
Q

Nucleotide excision repair defect

A

Xeroderm pigmentosum

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5
Q

Mutation of DNA mismatch repair

A

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

  • AD
  • recognizes UNmethylated new strand mismatches
  • 80% –> CRC
  • PROXIMAL colon alway involved
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6
Q

Cerebellar (ataxia)
Spider angiomas
IgA deficiency

A

Ataxia telangiectasia

- ATM gene - DNA repair enzymes

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7
Q

alpha-amantin

A

Inhibits RNA Pol II (mRNA)

Found in death cap mushrooms –> liver failure

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8
Q

Aminoglycosides

A

Bind 30S

Inhibits formation of initiation –> misread mRNA

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9
Q

Chloramphenicol

A

Inhibits 50S peptidyl transferase

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10
Q

Macrolides

A

Binds 50S –> Blocks translocation

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11
Q

Clindamycin & Chloramphenicol block?

A

Peptide bond formation

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12
Q

Tetracyclines

A

Bind 30S

Prevent aminoacyl-tRNA synthetase attachment

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13
Q

I-Cell Disease

A

Inherited lysosomal storage disorder

Failure to + Mannose-6-Phosphate –> secrete enzymes vs. –> lysosome

Sx:
Coarse facial features
Clouded corneas
Restricted joints

Fatal in childhood

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14
Q

Pyogenic infections - staph, strep
Albinism
Peripheral neuropathy

A

Chediak-Higashi Syndrome

  • Failure of phagosome & lysosome fusion
  • Defect Lysosomal Regulator Trafficking gene (LYST) = microtubule polymerization
  • AR
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15
Q

Kartagener’s Syndrome

A

Dynein arm defect (retro –> -)
Immoble cilia

Infertility
Bronchiectasis
Recurrent sinusitis
Assoc w/ situs inversus

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16
Q

Oubain

A

Inhibits binding to K+ site –> inhibits Na/K pump

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17
Q

Cardiac glycoside MOA

A

Inhibit Na/K pump –> inhibits Na/Ca exchange –> Inc Ca –> Inc contractility

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18
Q

Scurvy

A

Lack of Vit C

Required for hydroxylation of collagen w/ proline or lysine

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19
Q

Type I collagen defect

A

Osteogenesis imperfecta
Type I = AD
Type II = Fatal

Type I collagen (glycosylation)

  1. Multiple fx
  2. Blue sclera
  3. Hearing loss
  4. Dental imperfections
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20
Q

Type III Collagen defect

A

Ehlers-Danlos
Type III collagen defect (cross-linking)

  1. Hyperextensible joints
  2. Easy bruising
  3. Berry anyuerysms
  4. Hyper mobile joints/dislocation
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21
Q

Basket-weave GBM, Type IV collagen defect

A

Alport syndrome

  1. Deafness
  2. Nephritis
  3. Ocular disturbances
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22
Q

Defect in Fibrillin

A

Marfan’s Syndrome

  • Tall w/ long extremities
  • Pectus excavatum
  • Long, tapering fingers & toes (Arachnodactyly)
  • Medial necrosis of aorta –> dissecting AAs & aortic insufficiency
  • Floppy mitral valve
  • Subluxation of lens

Locus heterogeneity w/ MEN 2B, homocystinuria

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23
Q

alpha-1 anti-trypsin deficiency

A

Misfolded protein aggregates in heptocyte ER –> cirrhosis
PAS + globules in liver

Dec elastic tissu in lungs –> PANACINAR emphysema

Codominant trait

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24
Q

Southern Blot

A

DNA

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25
Q

Southwestern Blot

A

DNA-binding proteins (transcription factors)

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26
Q

Microarray

A

Level of gene expression

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27
Q

ELISA

A

Ag-Ab reactivity

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28
Q

FISH

A

Localization of genes & visualize anomalies

Fluorescence = gene present

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29
Q

Incomplete penetrance

A

Not everyone w/ mutation shows sx

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30
Q

Pleiotropy

A

1 gene >1 effect

PKU

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31
Q

Loss of heterogeneity

A

Mutation in tumor suppressor gene - complimentary allele must be deleted –> cancer

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32
Q

Mosaicism

A

Cells in body differ d/t POST-fertilization loss of genetic material

germ-line –> disease not in parent’s cells

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33
Q

Hyperphagia, hypogonadism, hypotonia, Paternal deletion

A

Prader-Willi
- should be active

Maternal in inactivated

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34
Q

Seizures, ataxia, inappropriate laughter “happy puppet,” maternal deletion

A

Angleman Syndrome
- should be active

Paternal inactive

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35
Q

AR trait

A

1 generation

2-carrier parents

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36
Q

XR trait

A

No male-to-male
More severe in males

Sons of heterozygous mothers = 50%

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37
Q

XD trait

A

ALL females of affected father

Both MF affected

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38
Q

FGFR3 mutation

A

Achondroplasia
- enchondral ossification

Dwarfism
Short limbs
NORMAL trunk & head
Normal lifespan & fertility

Assoc w/ advanced paternal age
AD & sporadic

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39
Q

AD Polycystic Kidney Disease

A

Adults
BILATERAL MASSIVE kidneys

PKD1 - Chr16
Polycystic liver
Berry aneurysm
MVP

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40
Q

AR Polycystic Kidney Disease

A

Infantile
Congenital hepatic fibrosis & Liver cysts
Portal HTN
HTN

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41
Q

Familial Adenomatous Polyposis

A

APC gene - chr5 (5 letters in polyp)

Polyps after puberty –> cancer

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42
Q

Familial hypercholesterolinemia

A

Defect/absent LDL receptor –> inc LDL

Achilles tendon xanthomas
Severe atherosclerosis –>MI b4 20

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43
Q

Osler-Weber-Rendu (Herediatry telangiectasia)

A

Telangiectasias
Recurrent epistaxis
Skin discolorations
AVMs

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44
Q

Hereditary spherocytosis

A

Spectrin or Ankyrin defect

Inc MCHC

Cure = splenectomy

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45
Q

Huntington

A

CAG expansion
Chr4 (hunting 4 food)

caudate atrophy –> dec GABA & Ach
Choreiform movements, progressive dementia

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46
Q

Multiple endocrine neoplasias (MEN) gene mutation

A

MEN 2A/B - RET gene

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47
Q

Lisch-nodules
Cafe-au-lait
Neural tumors
Scoliosis

A

Neurofibromatosis Type I

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48
Q

B/L Acoustic schwannoma

Juvenile cataracts

A

Neurofibromatosis Type II
NF2 gene - chr22

2 ears - NF2 - Chr22

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49
Q

Facial acne, hypopigmented lesion mainly on trunk, Hammartomas, Renal angiomyolipomas, Cardiac rhabdomyomas

A

Tuberous sclerosis

  • adenoma sebaceum
  • “ash leaf” spots
  • Inc astrocytomas
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50
Q

B/L renal cell carcinomas

Hemangioblastomas of retina, cerebellum, medulla

A

Von Hippel-Lindau Disease

- VHL gene on Chr3p

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51
Q

Recurrent pulmonary infections w/ PA & SA, Pancreatic insufficiency –> malabs of fat soluble vitamins, steatorrhea, FTT

A

AR CFTR gene
Chronic bronchitis
Bronchiectasis
Infertility

Inc Cl- sweat test

Tx = NAC to loosen mucus plugs

52
Q

Pelvic girdle –> superiorly
Hypertrophy of calves
Gower’s maneuver

A

Duchenne’s Muscular dystrophy

  • Frame-shift –> Deleted Dystrophin gene (DMD) –> muscle breakdown
  • longest gene in body = high mutation rate

Dx: inc CPK & biopsy

53
Q

MACRO-orchidism, long face, large jaw, MR

A

Fragile-X syndrome

  • FMR1 gene methylation & expression
  • CGG repeat

2nd most common cause of MR (Down)

Fragile-X - Xtra large testes

54
Q

Down syndrome

A

Trisomy 21

Flat facies
Prominent epicathal folds
Simian crease
Duodenal atresia
ASD
Inc ALL & Alzheimer

Inc beta-hCG

US = Inc nuchal translucency

55
Q

Trisomy 18

A

Edward’s syndrome (Election age 18)

Rocker-bottom feet
Micrognathia
Clenched hands

Death w/in 1yr

DEC beta-hCG

56
Q

Trisomy 13

A

Patau syndrome (Puberty 13)

Rocker-bottom feet
MicroOPHTHALMIA
Cleft liP/Palate
HoloProsencephaly
Polydactyly

NORMAL enzyme levels

57
Q

Robertsonian

A

Chr 13, 14, 15, 21, 22

2 acrocentric long arms fuse
2 short arms lost

58
Q

Cri-du-chat

A

Deletion of short arm of chr5 (46, XX or XY, 5p-)

High pitched cry/mew
Epicanthal folds
VSD
Microcephaly

59
Q

Williams syndrome

A

Deletion of long chr7

“Elfin” facies
HyperCa
EXTREME FRIENDLINESS w/ strangers

60
Q

Vitamin A (retinol)

A

Source: liver, leafy vegetables

Deficiency: night blindness

Excess: Teratogenic, alopecia, fatigue

61
Q

Vitamin B1

A

Thiamine

decarboxylation rxns –> ATP synthesis

Wernicke-korsakoff
Ber1-Ber1

62
Q

Wernicke-Korsakoff

A

B1 (thiamine) deficiency

Ophthalmoplegia + ataxia + confabulation
Memory loss

Dorsal medial nucleus of thalamus & mamillary body damage

63
Q

Wet Beri-Beri

A

High output cardiac failure (dilated cardio myopathy), edema

64
Q

Dry Beri-Beri

A

Polyneuritis, symmetrical muscle wasting

65
Q

Vitamin B2

A

Riboflavin

Cheilosis
Corneal vascularization

66
Q

Vitamin B3

A

Niacin

NAD derived from B3 (B3 = 3ATP)
From tryptophan & requires B6

3 D’s of B3:

  1. Diarrhea
  2. Dermatitis
  3. Dementia

Tx hyperlipidemia –> FLUSHING

67
Q

Vitamine B5

A

Pantothenate (5 = “pent”)

Component of CoA & FA synthesis

Deficiency: dermatitis, enteritis, alopecia, adrenal insufficiency

68
Q

Vitamin B6

A

Pyridoxine

Impaired Hb synthesis + Fe excess –> Sideroblastic anemia
Convulsions
Hyper-irritability
Peripheral neuropathy

69
Q

Vitamin B12

A

Cobalamin

Co-factor for homocysteine methytransferase
Animal products + microorganisms
Large reserve in liver

Deficiency causes:

  1. spure
  2. D. latum
  3. pernicious anemia
  4. No terminal ileum (Crohn’s)

Dx etiology = Schilling test

Sx:
Macrocytic, megaloblastic anemia (MCV >100)
Hypersegmented PMNs
Subacute combined degeneration

70
Q

Folic Acid

A

–> THF (co-factor w/ B12 in methyl transfer)
DNA & RNA synthesis
Foliage
Small reserves

Deficiency causes:
1. Phenytoin, sulfas, MTX

Sx
Macrocytic, megaloblastic anemia (MCV >100)
Hypersegmented PMNs
Most common vitamin deficiency
Alcoholism & pregnancy
71
Q

Biotin deficiency

A

excess egg whites - AVIDIN binds biotin

72
Q

Vitamin C

A

Ascorbic acid

Oxidized Fe3 –> Fe2 = Iron abs
Hydroxylation of proline & lysine –> collagen synthesis

Deficiency causes:
1. Scurvy - collagen synthesis defect

Sx:
Swollen gums, bruising, hemarthrosis, anemia, poor wound healing

Excess:
N/V/D, iron toxicity, fatigue

73
Q

Vitamin D

A 
D2 = ergo = plants
D3 = cholecalciferol = milk, sun
25-OH = storage
1,25-OH = active

Function = intestinal Ca+ & Phos abs, bone mineralization

Deficiency:
Rickets
Osteomalacia
INADEQUATE AMOUNT IN BREAST MILK

Excess:
Loss of appetite, stupor
Seen in sarcoid

74
Q

Vitamin E

A

Protects erythrocytes from ROS

Deficiency:
Hemolytic anemia
Muscle weakness
Post column, spinocerebellar demyelination

75
Q

Vitamin K

A

synthesized by intestinal flora

Required for clotting factor synthesis - II, VII, IX, X

Deficiency:
Inc PT & aPTT
Normal bleeding time
Neonates = sterile intestines = can’t make
NOT in breast milk = injection to prevent hemorrhage
After prolonged antibiotics

76
Q

Zinc

A

Essential for many enzymes
Zinc fingers - transcription factor motif

Deficiency:
Delayed wound healing
Hypogonadism
Ded adult hair
Dysgeusia
ANOSMIA
77
Q

Fomepizole

A

Inhibits alcohol dehydrogenase (0-order kinetics)

antidote for methanol or ethylene glycol OD

78
Q

Disulfram (antabuse)

A

Inhibits acetaldehyde dehydrogenase –> acedalhedhye accumulates = hangover

79
Q

Kwashiorkor

A

Protein malnutrition

Edema
Fatty liver change d/t dec APO synthesis

80
Q

Marasmus

A

ENERGY malnutrition

Tissue & muscle wasting
Loss of subq fat

81
Q

Electron transport inhibitors

A

Rotenone
CN-
Antimycin A
CO

82
Q

ATPsynthase inhibitors

A

Oligomycin

83
Q

Uncoupling agents

A

Inc membrane permeability –> dec H+ gradient
Produces heat

2,4-DNP
Aspirin

84
Q

G6PD Deficiency

A

NADPH required to keep glutathione reduced
Glutathione detoxifies ROA & peroxides
Dec NADPH –> HEMOLYTIC ANEMIA

Most common human enzyme deficiency
XR
Common among Blacks
Inc malarial resistance

  • Heinz bodies*
  • Bite cells*
85
Q

Essential fructosuria

A

Defect in fructokinase
AR
Benign, Asx condition

Fructose appears in urine

86
Q

Fructose Intolerance

A

AR deficiency of ALDOLASE B

Fruc-1-P accumulates –> less phis –> inhibits glycogenolysis & gluconeogenesis

Sx:
Hypoglycemia
Jaundice
Cirrhosis
Vomiting
87
Q

Galactokinase deficiency

A

AR deficiency in galactokinase

Galactitol accumulates

Sx:
Galactose in urine
Infantile cataracts
Failure to tract objects or develop smile

88
Q

Classic galactosemia

A

AR absence of Galactose-1-P Uridyltransferase

Sx:
FTT
Jaundice
Hepatomegaly
*Infantile cataracts*

Tx = exclude galactose & lactose

89
Q

Lactase deficiency

A

Age or hereditary loss (Blacks & Asians)

Loss of brush border enzyme

90
Q

Oxidizing agents for G6PD deficiency

A

Oxidizing agents:

  1. Fava beans
  2. Sulfonamides
  3. Primaquine
  4. Anti-TB
91
Q

Sorbitol dehydrogenase deficiency

A

Glucose –> sorbitol (aldose reductase)
Sorbitol –> Fructose (sorbitol dehydrogenase)

Sorbitol accumulates

  • cataracts
  • retinopathy
  • peripheral neuropathy
92
Q

Acidic A.A.

A

Asp
Glu

Negatively charged at body pH

93
Q

Basic A.A.

A

Arg
Lys
His

Arg & His = growth
Arg & Lys = histones
His = no charge at body pH

94
Q

Rate-limiting step in Urea Cycle

A

NH4 –> Carbamoyl Phos

Carbamoyl phosphate synthetase I

95
Q

Cori cycle

A

Lactate produced from pyruvate in anaerobic conditions instead of ATP

Transported to liver to undergo gluconeogenesis back to glucose

96
Q

Hyperammonemia

A

Excess NH4+ –> depletes alpha-KG –> inhibits TCA

Tx:
Limit protein
Lactulose acidifies GI & traps NH4+ for excretion

97
Q

Ammonia intoxication

A 
tremor
slurring
somnolence
vomiting
cerebral edema
blurred vision
98
Q

OTC deficiency

A

XR

Can’t eliminate ammonia (urea cycle)

Excess carbamoyl phos –> orotic acid

99
Q 
*Musty odor*
MR
Growth retardation
Seizures
Fair skin
Eczema
A

PKU

  • AR Dec Phenylalanine hydroxylase
  • Tyrosine become essential
  • Excess phenylketones in urine
100
Q

Dark CT
Brown sclera
Urine turns black on exposure to air

A

Alkaptonuria
- Congenital deficiency of homogentisic acid
(no degradation of Tyr –> fumarate)

101
Q

Albinism

A

Lack of:

  1. Tyrosinase (no melanin from Tyr)
  2. Defective tyrosine transporters (dec Tyr = dec melanin)
102
Q

Lens subluxation
atherosclerosis
MR
Tall w/ kyphosis

A

Homocystinuria

  1. Cystathione synthase deficiency
    - Inc cysteine, B12, Folate
  2. Dec affinity of cystathione synthase
    - Inc B6
  3. Homocysteine methyltransferase deficiency
    - B12
103
Q

Cystinuria

A

AR
Defect in PCT Cysteine, ornithine, lys, arg transporter

Can –> cystine kidney stones (staghorn calculi)
Tx: = acetazolamide to alkalinize urine

104
Q

Maple syrup urine disease

A 
Blocked degradation of BRANCHED A.A.
Ile
Leu
Val
"I Love Vermont maple syrup"

Severe CNS, MR, death

105
Q

Hartnup disease

A

AR
Defective NEUTRAL A.A. transporter
Renal or intestinal epithelial cells

Tryptophan excretion
Dec abs in gut
PELLAGRA

106
Q

Von Gierke’s Disease (Type I glycogen)

A

Deficiency = Glu-6-Phosphatase

Severe fasting hypoglycemia
Hepatomegaly (glycogen storage)
Inc blod lactate

107
Q

Pompe’s Disease (Type II glycogen)

A

Deficiency = Lysosomal alpha-1,4-glucosidase

Pompe-Pump
Cardiomegaly

108
Q

Cori’s Disease (Type II glycogen)

A

Deficiency = Debranching alpha-1,6-glucosidase

Milder type I w/ NORMAL lactate

109
Q

McArdle’s Disease (type IV glycogen)

A

Deficiency = skeletal muscle glycogen phosphorylase

McArdle-Muscle
Painful muscle cramps w/ exercise
Myoglobinuria
High glycogen in muscle that can’t be broken-down

110
Q

Fabry’s

A 
Deficiency = alpha-galactosidase
Accumulate = Ceramide trihexose

ONLY non AR lysosomal storage disorder = XR

Sx:
Peripheral neuropathy
Angiokeratomas

111
Q

Aseptic necrosis of femur, crumpled MOs, hepatosplenomegaly

A

Gaucher’s

  • Deficiency = Glucocerebrosidase
  • Accumulate = Glucocerebroside

*Gaucher’s cells = crumpled tissue paper MO

112
Q

Cherry-red spot on the macula + Hepatosplenomegaly (vs. Tay-Sachs)
Foam Cells

A

Niemann-Pick
- Deficiency = Sphingomyelinase
- Accumulate = Sphingomyelin
“No man Picks his nose with his Sphinger”

113
Q

Cherry-red sopt on the macula W/O hepatosplenomegaly

Lysosomes w/ onion skin

A

Tay-SaX

  • Deficiency = HeXosamidase A
  • Accumulate = GM2 ganglioside
  • hepatosplenomegaly (vs. Niemann-Pick)
114
Q

Peripheral neuropathy
Optic atrophy
Globoid cells

A

Krabbe’s Disease

  • Deficiency = B-Klactocerebrosidase
  • Accumulate = Kalactocerebroside
115
Q

Central + peripheral demyelination w/ ataxia

Dementia

A

Metachromatic Leukodystrophy

  • Deficiency = Arylsulfatase A
  • Accumulates = Cerebroside sulfate
116
Q

Gargoylism
Corneal clouding
Airway obstruction
Corneal clouding

A

Hurler’s

  • Deficiency = alpha-L-iduronidase
  • Accumulate = Heparan sulfate, dermatan sulfate
  • Corneal clouding (vs. Hunter’s)
117
Q

Hunter’s Syndrome

A 
Deficiency = Iduronate sulfatase
Accumulate = Heparan sulfate, dermatan sulfate

Sx:
Mild Hurler’s + AGGRESSIVE BEHAVIOR
NO corneal clouding (vs. Hurler’s)

118
Q

Abetalipoproteinemia

A

Hereditary inability to synthesize lipoproteins
- deficiencies in apoB-100 & apoB-48

Accumulation in enterocytes - can’t export lipids as chylomicrons

Sx:
FTT
Steatorrhea
Night blindness
Acanthocytosis
Ataxia
119
Q

Hypertriglyceridemia

A

Inc VLDL
Inc blood TGs

Hepatic OVERPRODUCTION of VLDL –> pancreatitis

120
Q

Familial Hypercholesterolinemia

A

Inc LDL
Inc blood cholesterol

AD dec/absent LDL receptors

  • -> accelerated atherosclerosis
  • -> tendon xanthomas (achilles)
  • -> corneal arcus
121
Q

Hyperchylomicronemia

A

Inc Chylomicrons
Inc blood cholesterol & TGs

LPL deficiency OR
altered aopC-II

Sx:
Pancreatitis
Hepatosplenomegaly
Eruptive/pruritic xanthomas (NO risk for atherosclerosis)

122
Q

DNA Methylation

A

Mute transcription

123
Q

DNA Methylation

A

Mute transcription

124
Q

Histone Acetylation

A

Euchromatin = active

125
Q

Histone Acetylation

A

Euchromatin = active

Step 1 (58 decks)

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