Pathology- Misc liver and GI diseases 2 Flashcards

1
Q

tyrosinemia urine odor?

A

boiled cabbage/rotten eggs

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2
Q

phenylketonuria urine odor?

A

mousy/musty

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3
Q

trimethylaminuria urine odor?

A

rotting fish

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4
Q

isovalaric acidemia urine odor?

A

sweaty feet

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5
Q

maple syrup urine disease urine odor?

A

maple syrup

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6
Q

poor feeding + lethargy + seizure suggets?

A
  • hypoglycemia or hypocalcemia
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7
Q

tyrosinemia type 1

A

aminoacidopathy d/t fumaryl acetoacetase deficiency

AR, french canadians esp

=- back up metabolism of tyrosine leads to buildup of toxic metabolites to liver and kidney and mutagenic in liver

  • liver toxicity manifested by steatosis, cholestasis, nodular regeneration w/ cholangiolar proliferation, cirrhosis, dysplasia and HCC
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8
Q
A
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