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FA 2 Biochem > Q&A > Flashcards

Q&A Flashcards

1
Q

GI (abdominal pain), neuro/psych (peripheral neuropathy), heart problems (tachycardia, HTN), dark urine

  • dx
  • pathway
  • deficient
  • accumulate
A
  • acute intermittent porphyria (AIP)
  • heme synthesis
  • deficient porphobilinogen deaminase
  • buildup of ALA and porphobilinogen
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2
Q

arthritis, urine darkens upon standing, kidney stones

  • dx
  • deficient
  • accumulate
A
  • alkaptonuria
  • deficient homogentisic acid oxidase
  • accumulate homogentisate
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3
Q

cardiomegaly, weakness, hypotonia in infant

  • dx
  • deficient
A
  • Pompe disease

- Lysosomal a-1,4 glucosidase deficiency

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4
Q

baby with increased ammonium in blood, MR

  • deficiency
  • pathway
  • tx
A
  • ornithine transcarbamylase deficiency
  • urea cycle
  • limit protein intake, rx phenylbutyrate (binds AAs for excretion)
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5
Q

young child, palpate abdominal mass (kidney), blood in urine, tumor w/ deletion of 11p

  • dx
  • gene deletion
A
  • Wilms tumor

- WT1

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6
Q

common adrenal medulla tumor

  • dx
  • chromosome deletion
  • gene deletion
A
  • neuroblastoma
  • 2p
  • N-myc
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7
Q

ataxic gait, cardiac dysrhythmia

  • dx
  • genetic problem
  • gene defect
A
  • Friedrich ataxia
  • triplet repeats
  • frataxin (decreased translation)
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8
Q

baby can’t hold up head or make noises, pale skin / hypo pigmentation, eczema, odd odor, hyperreflexia, MR

  • dx
  • deficient
  • blood levels: increased…
  • treatment
A
  • PKU
  • phenylalanine hydroxylase
  • increase phenylalanine levels
  • low phenylalanine diet, supplement tyrosine
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9
Q

diarrhea, dermatitis, dementia

  • dx
  • deficient
A
  • Pellagra

- vitamin B3 (niacin)

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10
Q

vitamin that prevents RBC hemolysis

A

Vitamin E

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11
Q

child w/ bilateral hip dislocations, restricted ROM in shoulder and elbow, coarse facial features, psychomotor impairment

  • dx
  • molecular problem
A
  • I cell disease
  • GlcNAc phosphotransferase on Golgi apparatus (so defective Golgi) can’t add mannose-6-phophate, so lysosomal enzymes can’t go into lysosomes (so will be excreted by cell) - lysosomes will be in extracellular space (instead of intracellular)
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12
Q

abdominal pain radiating to back, weight loss, migratory thrombophlebitis (red and tender extremities), obstructive jaundice w/ palpable gallbladder

  • dx
  • tumor marker
  • labs
  • tx
A
  • pancreatic adenocarcinoma
  • CA19-9
  • increased conjugated bilirubin, increased urine bilirubin, decreased urine urobilinogen
  • Whipple procedure, chemo, radiation
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13
Q

weak lower extremities, uses hands to get up, increased creatine kinase

  • dx
  • inheritance
  • genetic defect
  • function of gene
A
  • Duchenne muscular dystrophy
  • X recessive
  • dystrophin gene
  • links actin to laminin
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14
Q

what is the molecular cause of acidosis in alcoholism

A

increased NADH

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15
Q

Ashkenazi Jew with loss of motor skills, increased startle reaction, cherry red macula

  • dx
  • enzyme deficiency
A
  • Tay-Sachs

- Hexosaminidase A

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16
Q

peripheral neuropathy, cardiovascular problems, renal disease

  • dx
  • enzyme deficiency
A
  • Fabry disease

- alpha galactosidase A

17
Q

central and peripheral demyelination, ataxia, dementia

  • dx
  • enzyme deficiency
A
  • metachromatic leukodystrophy

- arylsulfatase A

18
Q

developmental delay, aggressive behavior, airway obstruction

  • dx
  • enzyme deficiency
A
  • Hunter syndrome

- iduronate synthase

19
Q

hyperextensible joints, decreased tensile strength of collagen

  • dx
  • enzyme deficiency
A
  • Ehlers Danlos

- lysyl hydroxylase

20
Q

fructose intolerance

- enzyme deficiency

A

aldolase B

21
Q

neonatal respiratory distress syndrome

  • deficiency
  • made from what cell
  • how to test for lung maturity
A
  • dipalmitoyl phosphatidylcholine (surfactant)
  • type II pneumocytes
  • lecithin:sphingomyelin ratio in amniotic fluid (decr chance of NRDS if >2)
22
Q

what happens in increased elastase

A
  • lung tissue destruction / emphysema

- liver cirrhosis

23
Q

5-FU works on what phase of the cell cycle

A

S phase

24
Q

etoposide acts on what phases of the cell cycle

A

G2, S phases

25
Q

methotrexate works on what phase of the cell cycle

A

S phase

26
Q

vincristine works on what phase of the cell cycle

A

metaphase of mitosis

FA 2 Biochem (2 decks)

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