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Biochemistry Flashcards

1
Q

Von Gierke

A

Fasting Hypoglycemia
Hepatomegaly
Increased Lactase and Uric acid levels
G6 Phosphatase deficiency

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2
Q

Pompe

A

Early death from heart failure
Lysosomal a-1,4-glucosidase deficiency

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3
Q

Cori

A

Deficient a-1,6-glucosidase (debranching) enzyme
Short branches of glycogen, normal lactate
Milder Von Gierke
Limit dextrins

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4
Q

Anderson’s

A

Branching enzyme deficiency
Long chains of glycogen

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5
Q

McArdle’s

A

Myophosphorylase deficiency (skeletal muscle)
Increased muscle glycogen only: cramps
Second Wind phenomenon

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6
Q

Essential Fructosuria

A

Fructokinase deficiency
Excretion of fructose in blood, urine

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7
Q

Fructosemia

A

“fructose intolerance”
Aldolase B deficiency
Kidney and liver damage. Infants.

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8
Q

Galactosemia sequelae

A

Cataracts, retardation, liver damage

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9
Q

Glactokinase deficiency sequelae

A

Cataracts

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10
Q

Cherry-red macula

A

Tay-Sachs
Neimann-Pick

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11
Q

Gargoyle Face

A

Gaucher’s
Hurler’s

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12
Q

Tay-Sachs

A

Hyper-reflexia, developmental delay
“onion skin” lysosomes
Hexosaminidase A deficiency

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13
Q

Sandhoff’s

A

Hexosaminidase A/B deficiency

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14
Q

Gaucher’s

A

Wrinkled tissue Macrophages
Bone Pain
Pancytopenia
Glucocerebrosidase (b-Glucosidase) deficiency

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15
Q

Neimann-Pick

A

Hepatosplenomegaly, Areflexia
Sphingomyelinase deficiency
Foam Cells (lipid-laden MO)

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16
Q

Fabry’s

A

Attacks baby’s kidneys and heart
X-Recessive
a-Galactosidase deficiency
Ceramide Trihexoside accumulation

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17
Q

Krabbe’s

A

Peripheral neuropathy, optic atrophy, globoid bodies
Galactocerebrosidase deficiency
Galactocerebroside and Psychosis accumulate

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18
Q

Metachromatic Leukodystrophy

A

Childhood MS w/ Ataxia, Dementia
Arylsulfatase A deficiency
Cerebroside Sulfate accumulates

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19
Q

Hunter’s

A

NO CORNEAL CLOUDING, milder. Aggressive behavior.
X-recessive
Iduronate Sulfatase deficiency
Accumulation of Heparin and Dermatan Sulfate

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20
Q

Hurler’s

A

Corneal Clouding, worse. Gargoylism.
Alpha-L-Iduronidase deficiency
Accumulation of Heparin and Dermatan Sulfate

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21
Q

Lesch-Nyhan

A

Gout, neuropathy, self-mutilation, dystonia
X-Recessive
Orange-sand crystals in diaper
HGPRT deficiency.

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22
Q

White diaper crystals

A

Excess Orotic Acid

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23
Q

PKU

A

The doesn’t convert to Tor
Aspartame sensitivity, retardation, pale, blond hair, blue eyes, musty odor

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24
Q

MSUD

A

Defective branched aa (Leu, Iso, Val) metabolism
They lead out, makes urine smell.
Defective branched chain alpha keto acid dehydrogenase

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25
Q

Homocysteinuria

A

Cystathionine synthase or Homocysteine Methyltransferase deficiency
Homocysteine doesn’t get converted to cysteine
Marfanoid body, downward lens dislocation, increased Stroke/MI

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26
Q

Cysteinuria

A

No cysteine reabsorption from defective aa transporter in PCT and GI
Cysteine, Ornithine, Lysine, Arginine (cola), Hexagonal (cysteine) stones in urine
Dx w/ Urinary cyanide nitroprusside test

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27
Q

Pellagra

A

Niacin (B3) deficiency
Dermatitis, Diarrhea, Dementia, Death

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28
Q

Hartnup’s

A

No Tryptophan
Can’t make niacin or 5HT
Looks like pellagra except its genetic

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29
Q

Leg Bowing

A

Anterior: neonatal syphillis
Lateral: Rickets

30
Q

B6

A

Transaminase cofactor, Myelin integrity

31
Q

Chromosome 3 pathology

32
Q

Chromosome 4 pathology

A

ADPKD (PKD2)
Achondroplasia
Huntington’s

33
Q

Chromosome 5 pathology

A

Cri du Chat
Familial Adenomatous Polyposis

34
Q

Chromosome 6 pathology

A

Hemochromatosis

35
Q

Chromosome 7 pathology

A

Williams syndrome
CFTR

36
Q

Chromosome 9 pathology

A

Friedericks Ataxia

37
Q

Chromosome 11 pathology

A

Wilms tumor
b-Globin chain

38
Q

Chromosome 13 pathology

A

Patau
Wilson
RB
BRCA2

39
Q

Chromosome 16 pathology

A

APKD (PDK1) a-Globin defects

40
Q

Chromosome 17 pathology

41
Q

Chromosome 18 pathology

A

Edward’s syndrome

42
Q

Chromosome 22 pathology

A

NF2
DiGeorge

43
Q

X chromosome pathology

A

Fragile X
Bruton
Kleinfelter
DMD
Lesch-Nyhan
Hemophilia A/B
Wiskott-Aldrich
Fabry
Ocular Albinism

44
Q

Autosomal Dominant

A

vWD, Marfan, Osteogenesis Imperfecta, NF, Osler-Weber-Reunu, Achodroplasia, Tuberous Sclerosis, Hereditary Spherocytosis, HOCM, VHL

45
Q

Immune disorder with low Ca

A

DiGeorge: Thymus + inf. Parathyroid messing (3rd pouch)
Manage with TMP-SMX, Ca, Itraconazole +/- Gancyclovir

46
Q

SCID

A

ADA deficiency (most common), or X-Linked
T and B cell deficient
give IVIGs, TMP-SMX, Itraconazole, Gancyclovir
BM transplant is standard of care

47
Q

Wiskott Aldrich

A

WASP mutation, T and B cannot bind
X-Recessive
Fair skin, Thrombocytopenia, Eczema, Hodgkin
Abx, topical steroids, IVIG, platelets

48
Q

Cause of hyper IgM

A

Decreased T (CD40) - (CD40L) B

49
Q

Brouton’s Agammaglobulinemia

A

Dx 6 mo (when mom’s Abs wear off) - 1 year
Low B count with poor fxn,
All Ig’s are low

50
Q

CVID

A

Late onset (after 1 year)
Normal B count but cannot specialize (low plasma cells, Igs)

51
Q

Encapsulated G+

A

Strep Pneumo

52
Q

Encapsulated G-

A

Salmonella
Klebsiella
H Flu
PSeudomonas
Neisseria
Citrobacter

53
Q

Job syndrome

A

Hyper-IgE (all others decreased)
Low INF-y

54
Q

Chronic granulomatous disease

A

X Recessive, Nitro blue test for dx
Catalase + infections (staph, candida, pseudomonas, etc)

55
Q

Chediak-Higashi

A

Lysosomes slow to fuse with ingested pathogen
Lysosomal inclusions on histology
Albinism
CHS1/LYST gene

56
Q

50S Abx

A

Macrolides
Clindamycin
Chloramphenicol
Linezolid
Streptogrammins

57
Q

30S Abx

A

Aminoglycosides
Tetracyclines

58
Q

Metronidazole MOA

A

Free radical damage to DNA

59
Q

Rifampin MOA

A

Inhibits RNA Polymerase, blocking mRNA synthesis

60
Q

Fluoroquinolone MOA

A

DNA gyrase inhibition

61
Q

Sulfonamide MOA

A

Folic Acid synthesis and reduction inhibition
Blocks PABA to DHF
TMP blocks DHF to THF

62
Q

Treat lead poisoning

63
Q

Treat cyanide poisoning

A

Cyanocobalamin

64
Q

Level of evidence by study design

A
  1. RCT / meta-analysis
  2. Prospective cohort
  3. Retrospective cohort
  4. Case series, Cross-Sectional
  5. Expert opinion, Case study, examples
65
Q

HMO

A

Narrow panel of physicians
Insurance directly pays physicians
Low cost, no out-of-network unless emergency

66
Q

Accountable Care Organization

A

Multidisciplinary providers for defined patient population
Group contractual relationship with insurer

67
Q

Patient Centered Medial Home

A

Group of PCPs
Maybe part of cost savings model

68
Q

Screening Levels

A
  1. Prevent Disease
  2. Detect it early
  3. Slow / stop disease, prevent complications
  4. Prevent unnecessary interventions
69
Q

Treat Homocysteinuria

A

Supplement B6, B9, B12

70
Q

Aspirin OD

A

Ringing in ears, seizure, tachypnea, etc
Tx w/ HCO3-

Clues (14 decks)

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