Pathology- Misc liver and GI diseases 2 Flashcards
1
Q
tyrosinemia urine odor?
A
boiled cabbage/rotten eggs
2
Q
phenylketonuria urine odor?
A
mousy/musty
3
Q
trimethylaminuria urine odor?
A
rotting fish
4
Q
isovalaric acidemia urine odor?
A
sweaty feet
5
Q
maple syrup urine disease urine odor?
A
maple syrup
6
Q
poor feeding + lethargy + seizure suggets?
A
- hypoglycemia or hypocalcemia
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
8
Q
A