Misc. GI and Liver Dz part 2

Question 1

What is the urine odor associated with tyrosinemia?

Answer 1

boiled cabbage of rotten eggs

Question 2

phenylketonuria

Answer 2

musty

Question 3

trimethylaminuria

Answer 3

rotting fish

Question 4

isovalaric acidemia

Answer 4

sweaty feet

Question 5

maple syrup urine dz

Answer 5

maple syrup

Question 6

what is type i tyrosinemia

Answer 6

aminoacidopathy due to fumaryl-acetoacestase def

french canadians AR

Question 7

whati s presentation of tyrosinemia i liver toxi

Answer 7

steatosis, cholestasis, nodular regeneration with cholangiolar proliferation, cirrhosis, dysplasia and hcc

Question 8

how can you dx tyrosinemia?

Answer 8

high urine succinylacteone

Question 9

otc deficiency?

Answer 9

most commonurea cycle disorder, pts normal until fed protein, develop irritability, vomiting, lethargy, resp arrest due to hyperammonemia

Question 10

what is gaucher’s dz

Answer 10

beta-glucocerebrosidase deficiency, adult fomr = most common lysosomal storage dz common in jews

Question 11

what is the presentation of gaucher’s disease

Answer 11

splenomegaly, pancytopenia, bone pain

Question 12

what is von gierke

Answer 12

glycogen storage disease type i, get hepatomas hepatomegaly with gypoglycemia

Question 13

what is porphyrias?

Answer 13

diverse group of inborn errors of metab involving enzymes in heme synthesis, usually porphyria cutanea tarda, onset usualy after age 20. bullae with sun exposure attributed to rox

Question 14

what is pyloric stenosis

Answer 14

presents as emaciated and dehydrated with papable olive-like mass at lateral edge of ructus abdominus muscle with vomiting