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PLE 2017 > Biochemistry: DISEASES > Flashcards

Biochemistry: DISEASES Flashcards

1
Q

secondary structure defect of Alzheimer’s?

A

b-pleated sheet

amyloid

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2
Q

HBA1c cut off in pregnancy for diagnosis?

A

> 6.5%

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3
Q

HBA1c goal for non-pregnant

A

7%

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4
Q

diagnosis?

  • cherry pink
  • treatment: 100% oxygen
A

carboxyhemoglobin

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5
Q

diagnosis?

  • chocolate cyanosis
  • O2 sat of 85%
  • oxidized form of hgb has increased affinity to cyanide
  • treatment: methylene blue
A

methemoglobin

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6
Q

diagnosis?

  • intrinsic defect of RBC
  • mutation in ankyrin
  • Jaundice, Anemia, Splenomegaly
  • dx: osmotic fragility test
  • tx: splenectomy
A

hereditary spherocytosis

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7
Q

diagnosis?

  • glu –> valine
  • anemia, painful crises, tissue anoxia
  • protective against malaria
A

sickle cell disease

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8
Q

diagnosis?

  • glu –> lysine
  • mild hemolytic anemia
A

hemoglobin C disease

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9
Q

diagnosis?

  • accumulation of Hb Bart, Hb F and b-chain precipitation
  • readily appears at birth
A

Alpha Thalassemia (Chromosome 16)

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10
Q

diagnosis?

  • accumulation of Hb Bart and a-chains
  • appears at 6months
A

Beta Thalassemia (Chromosome 11)

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11
Q

manifested as Cooley Anemia

A

Beta Thalassemia

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12
Q

Collagen Defect? Ehler Danlos Syndrome

A

type 3

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13
Q

Collagen Defect? Alport Syndrome

A

type 4

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14
Q

Collagen Defect? osteogensis imperfecta

A

type 1

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15
Q

Collagen Defect? epidermolysis bullosa

A

type 7

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16
Q

diagnosis?

  • copper deficiency
  • kinky hair, growth retardation
A

menkes disease

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17
Q

diagnosis?

  • hyperextensibility of skin
  • abnormal tissue fragility
  • increased joint mobility
  • intracranial aneurysms - most serious manifestation
A

ehlers-danlos syndrome

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18
Q

diagnosis?

  • hydroxylation of collagen
  • vitamin C deficiency
A

scurvy

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19
Q

diagnosis?

- brittle bone syndrome

A

osteogenesis imperfecta

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20
Q

diagnosis?
- glomerular & cochlear BM manifestations:
HEMATURIA + HEARING LOSS

A

alport syndrome

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21
Q

diagnosis?

- skin that breaks and with blisters after minor trauma

A

epidermolysis bullosa

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22
Q

diagnosis?

  • mutation in fibrillin gene; autosomal dominant
  • aortic dilatation
  • ectopia lentis (upward direction)
A

marfan syndrome

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23
Q

diagnosis?

- associated with panacinar emphysema

A

a-1 antitrypsin deficiency

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24
Q

diagnosis

  • glucose 6 phosphatase deficiency
  • hyperuricemia
A

von gierke disease

glycogen storage disease type 1a

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25
Q

liver phosphorylase deficiency

A

hers disease

glycogen storage disease type 6

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26
Q

PFK deficiency

A

Tarui disease

glycogen storage disease type 7

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27
Q

diagnosis?

  • (a-glucosidase) lysosomal acid maltase deficiency
  • muscle dystrophy
A

pompe disease

glycogen storage disease type 2

28
Q

debranching enzyme deficiency

A

cori disease

glycogen storage disease type 3a

29
Q

branching enzyme deficiency

A

andersen disease

glycogen storage disease type 4

30
Q

muscle phosphorylase deficiency

A

mc ardle syndrome

glycogen storage disease type 5

31
Q

diagnosis?

  • most common disease producing enzyme abnormality in humans?
  • decreased NADPH in PPP
  • pathology: heinz bodies, bite cells
  • precipitated by: sulfonamides, primaquine, chloramphenicol, fava beans
A

Glucose 6-phosphate dehydrogenase deficiency

32
Q

diagnosis?

  • deficiency in NADPH oxidase
  • manifested with severe, persistent and chronic pyogenic infections
A

chronic granulomatous disease

33
Q

diagnosis?

  • most common inborn error of FA oxidation
  • severe hypolgylcemia
  • SIDS
  • tx: avoid fasting
A

Medium-chain fatty acyl coa dehydrogenase

34
Q

akee tree: toxin hypoglycin

A

JAMAICAN VOMITING SICKNESS

35
Q

accumulation of phytanic acid

A

REFUSM DISEASE

36
Q

diagnosis?

  • cerebrohepatorenal syndrome
  • inherited absence of peroxisomes
  • very long chain FA
A

ZELLWEGER SYNDROME

37
Q

very long chain FA accumulated in brain, adrenals & testes
- neurodegeneration, adrenocortical insufficiency, hypogandism

A

ADRENOLEUKODYSTROPHY

38
Q

congenital adrenal hyperplasia - what specific deficiency?

- hypotension, hypolgycemia, virilization

A

21 - a - hydroxylase deficiency

- most common CAH (90%)

39
Q

congenital adrenal hyperplasia - what specific deficiency?

- low renin HYPERTENSION, hypoglycemia, virilization

A

11 - b1 - hydroxylase deficiency

40
Q

diagnosis?

  • low LDL, low HDL
  • no increased risk of coronary artery disease
A

TYPE 1
familial lipoprotein lipase deficiency
- lipoprotein lipase or apo C2

41
Q

diagnosis?

  • high VLDL, cholesterol
  • associated with type 2 dm, obesity, alcoholism
A

TYPE 4
familial hypertriacylglycerolemia
- OVERPRODUCTION OF LDL

42
Q

Type 3 hyperlipoproteinemia defect?

A

abnormal apo E

- familial dysbetalipoproteinemia

43
Q

Type 2a hyperlipoproteinemia defect?

A

defective LDL receptor

- familial hypercholesterolemia

44
Q

most common hereditary hyperammonemia

A

ornithine transcarbomylase deficiency

step2

45
Q

most severe hereditary hyperammonemia

A

carabomyl phosphate synthetase-1 deficiency

step1

46
Q

accumulation of homogentisic acid

A

alkaptonuria

- ochronosis (CT is dark)

47
Q

defective melanin synthesis

A

albinism

48
Q

defect in methionine degradation

A

homocystinuria

  • high plasma and urinary levels of homocysteine and methionine
  • low levels of cysteine
  • ectopia lentis (downward)
  • faulty bone development and osteoporosis

**MI + stroke in child and young adults

49
Q

defect of renal tubular AA transport in PCT of kidneys

A 
Cystinuria
C - cystine
O - ornithine
L - lysine
A - arginine
50
Q

methylmalonyl coa mutase deficiency affects what AA?

A 
VIT Meth
valine
isoleucine
threonine
methionine
51
Q

MSUD AA?

A

LIV
Leucine
Isoleucine
Valine

52
Q

LEAD POISONING inactivates what enzymes?

A

ALA dehydratase & ferrochelatase

53
Q

HGPRT enzyme deficiency

A 
Lesch-Nehan Syndrome
H - HYPERURICEMIA
G - GOUT
P - PISSED OFF (SELF MUTILATION)
R - RETARDATION
T - DYS(T)ONIA
54
Q

adenosine deaminase deficiency

A

SCID

55
Q

diagnosis?

  • a- L iduronidase deficiency
  • AR
  • coarse facial features, mental retardation
  • corneal clouding
A

HURLER SYNDROME

Mucopolysaccharidoses - 1

56
Q

diagnosis?

  • iduronate sulfatase
  • X-linked
  • coarse facial features, mental retardation
  • NO corneal clouding
A

HUNTER SYNDROME

Mucopolysaccharidoses - 2

57
Q

Mucopolysaccharidose disorder that presents with HYPERACTIVITY

A

SANFILIPPO SYNDROME

Mucopolysaccharidoses - 3

58
Q

Mucopolysaccharidose disorder that presents with NO CNS INVOLVEMENT

A

MORQUIO SYNDROME

Mucopolysaccharidoses - 4

59
Q

7 GLYCOGEN STORAGE DISEASE?

A 
Very Pumped CORe AND Muscle Herr Tar
1 - VON GIERKE
2 - POMPE
3 - CORI
4 - ANDERSEN
5 - MC ARDLE
6 - HERS
7 - TARUI
60
Q

diagnosis?
(enzyme deficiency + lipid accumulating)
HEXOSAMINIDASE A2 + GM2 GANGLIOSIDE

A

TAY SACHS DISEASE

  • cherry red spot on macula BUT NO HEPATOMEGALY
  • seen in ashkenazi jews
  • patho: lysosomes with onion skin

(Mnemonic: TAY - HEX - GANG)

61
Q

diagnosis?
(enzyme deficiency + lipid accumulating)
CERAMIDASE + CERAMIDE

A

FARBER DISEASE

  • lipids in joints
  • hoarse cry

(Mnemonic: FARBER - CERAMIDE)

62
Q

diagnosis?
(enzyme deficiency + lipid accumulating)
B-GALACTOSIDASE + GALACTOSYLCERAMIDE

A

KRABBE DISEASE

Mnemonic: GRABE, GAL - GAL

63
Q

diagnosis?
(enzyme deficiency + lipid accumulating)
SPHINGOMYELINASE + SPHINGOMYELINE

A

NIEMANN PICK DISEASE

  • cherry red spot on macula
  • patho: FOAM CELLS

(Mnemonic: Niemann Sphing)

64
Q

diagnosis?
(enzyme deficiency + lipid accumulating)
B-GLUCOSIDASE + GLUCOSYLCERAMIDE

A

GAUCHER DISEASE

  • most common lysosomal storage disease
  • patho: CRUMPLED TISSUE PAPER MACROPHAGES

(Mnemonic: GGGluc)

65
Q

diagnosis?
(enzyme deficiency + lipid accumulating)
A-GALACTOSIDASE + GLOBOTRIASYLCERAMIDE

A

FABRY DISEASE

  • reddish purple skin rash
  • kidney & heart failure
  • XL recessive

(Mnemonic: Fab Gal Globe)

66
Q

diagnosis?
(enzyme deficiency + lipid accumulating)
ARYLSULFATASE A + 3 SULFOGALAVTOSYLCERAMIDE

A

METACHROMATIC LEUKODYSTROPHY (MLD)

  • progressive paralysis, cognitive demyelination
  • patho: SULFATIDES

(Mnemonic: MLD - Sulfa)

67
Q

5 mucopolysaccharidoses
H-H-S-M-S
(hot-hot sex, more sex!)

A 
(hot-hot sex, more sex!)
MPS1 - Hurler
MPS2 - Hunter
MPS3 - Sanfilippo
MPS4 - morquio
MPS5 - Sly

PLE 2017 (6 decks)

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