inborn errors of metabolism

Question 1

fabry enzyme?

Answer 1

alpha galactosidase A

Question 2

fabry accumulated substance?

Answer 2

ceramide trihexoside

Question 3

fabry sx? 3 oph

Answer 3

verticillata, comma shape conjunctival aneurysms, periorbital edema, renal failure peripheral neuropathy, angiokeratomas

Question 4

gaucher sx? 3

Answer 4

HSM, pancytopenia, femur necrosis

Question 5

gaucher enzyme?

Answer 5

glucocerebrosidase

Question 6

gaucher accumlated substance?

Answer 6

glucocerebroside

Question 7

niemann pick sx? 3

Answer 7

cherry red macula, HSM, neurodegeneration

Question 8

pick enzyme?

Answer 8

sphingomyelinase

Question 9

pick accumulated substance?

Answer 9

sphingomyelin

Question 10

tay sachs sx?

Answer 10

cherry red macula, developmental delay, no HSM

Question 11

tay sachs enzyme?

Answer 11

hexosamanidase A (tay saX)

Question 12

tay sachs substance accum?

Answer 12

GM2 ganglioside

Question 13

hurler sx? it’s a mucopolysaccharidose aka lysosomal storage disorder

Answer 13

corneal clouding, HSM, developmental delay, gargoylism

Question 14

hurler enzyme?

Answer 14

alpha l iduronidase

Question 15

hurler substance

Answer 15

heparan/dermatan sulfate

Question 16

hunter sx? 1 ophtho

Answer 16

pigmentary retinopathy, no corneal clouding, aggressive behavior, like hurler

Question 17

hunter enzyme

Answer 17

Iduronate sulfatase

Question 18

hunter substance

Answer 18

Heparan sulfate, dermatan sulfate

Question 19

retinal lysosomal diseases / MPS ?

Answer 19

hunter, hurler, scheie, san filippo

Question 20

recurrent pseudodendrites?

Answer 20

tyrosinemia (restrict tyrosine and phenylalnine although latter will be normal in blood)

Question 21

deposition of pigment near rectus muscle insertions?

Answer 21

alkaptonuria (metabolism of tyrosine and phenylalanine is bad, dark urine)