patho

Question 1

what are the genes involved in Tay sachs disease

Answer 1

mutation in Hexoaminidas will lead to accumulation of GM2 ganglioside

Question 2

what are the genes involved in fabry disease

Answer 2

mutation in alpha galactosidase A will lead to accumulation of ceramide trihexodase

Question 3

metachromatic leukodystrophy

Answer 3

mutation in ARSA will lead to accumulation of cerebroside sulfate

Question 4

krabbe disease

Answer 4

mutation galactocerebrosidase will lead to accumulation of galactocerebroside and psychosine

Question 5

gaucher disease

Answer 5

mutation in glucocerebrosidase will lead to accumulation in Glucocerebroside

Question 6

niemann-pick disease

Answer 6

mutation in sphingomyelinase will lead to mutation in sphingomyelin

Question 7

Hurler syndrome

Answer 7

mutation in alpha L idruonidase will lead to accumulation of dermatan sulfate and heparan sulfate

Question 8

hunter syndrome

Answer 8

mutation in idruonate 2 sulfatase will lead to accumulation of dermatan sulfate and heparan sulfate

Question 9

von gierke disease

Answer 9

mutation in glucose 6 phosphate

Question 10

pompe disease

Answer 10

mutation in alpha 1,4 glucosidase

Question 11

Cori disease

Answer 11

mutation in debranching enzymes alpha 1,6 glucosidase, 4 alpha d glucanotransferase

Question 12

Anderson disease

Answer 12

mutation in branching enzymes

Question 13

McArdle disease

Answer 13

mutation in skeletal muscle glycogen phosphorylase`