6.6 Flashcards

1
Q

Inclusion cell disease

A

LSD defect in N-acetylglucosaminyl-1-phosphotransferase –> failure of golgi to psophroylate mannose residues–> proteins secreted extracellularly instead of to lysosomes

coarse facial features, clouded corneas, restricted joint movement

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2
Q

collagen synthesis steps

A
  1. alpha chains- Glycine-X-Y
  2. hydroxylate proline and lysine
  3. glycosylation –> triple helix
  4. exocytosis
  5. procollagen cleaved to –> tropocollagen
  6. cross link- lysyl oxidase
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3
Q

menkes disease

A

x linked ATP4A defect–> cant absorb/transport copper (cofactor for lysyl oxidase)

no lysyl oxidase –> brittle hair, growth retard, hypotonia

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4
Q

myotonic dystrophy type 1

A

aut dom- CTG repeat–> DMPK gene

myotonia, muscle wasting, cataracts, testicular atrophy, balding, arrythmia

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5
Q

trinucleotide repeat for fragile x syn

A

CGG

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6
Q

cri du chat

A

microdeletion of chrom 5

microcephaly, ID, high pitched cry, epicanthal folds, VSD

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7
Q

which chromosome is williams syndrome

A

microdeletion of long arm of chrom 7

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8
Q

hyperchylomicronemia

A

aut rec

LPL or apo C-II def

pancreatits, HSM, xanthomas

no atherosclerosis!

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9
Q

malonyl CoA inhibits

A

beta oxidation RLS

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