biochem - inborn errors metabolism Flashcards
Fabry - deficient enzyme
a-galactosidase A
ceramide trihexosidase
Fabry - accumulated substrate
ceramide trihexoside
Gaucher - deficient enzyme
glucocerebrosidase
beta-glucosidase
Gaucher - accumulated substrate
glucocerebroside
Niemann-Pick - deficient enzyme
sphingomyelinase
Neimann-Pick - accumulated substrate
sphingomyelin
Tay-Sachs - deficient enzyme
hexosaminidase A
Tay-Sachs - accumulated substrate
GM2 ganglioside
Krabbe - deficient enzyme
galactocerebrosidase
Krabbe - accumulated substrate
galactocerebroside,
psychosine
metachromatic leukodystrophy - deficient enzyme
arylsulfatase A
metachromatic leukodystrophy - accumulated substrate
cerebroside sulfate
Hurler - deficient enzyme
alpha-L-iduronidase
Hurler - accumulated substrate
heparan sulfate, dermatan sulfate
Hunter - deficient enzyme
iduronate sulfatase