Lysosomal Storage Disorders

Question 1

what is inheritance of Tay Sachs?

Answer 1

AR

Question 2

what is seen in eye with tay sachs?

Answer 2

cherry red spot

Question 3

what is enzyme deficiency in tay sachs?

Answer 3

hexosaminidase A tAy saX

Question 4

does tay sachs have hepatosplenomegaly?

Answer 4

NO

Question 5

what are symptoms of tay sachs?

Answer 5

DD, hyperreflexia, neurodegeneration

Question 6

what builds up in tay sachs disease?

Answer 6

GM2 gnaglioside

Question 7

how is fabry disease inherited?

Answer 7

XR

Question 8

what is enzyme deficiency in fabry disease?

Answer 8

a galactosidase A

Question 9

what accumulates in fabry disease/

Answer 9

ceramide trihexoside

Question 10

what is early triad of fabry disease?

Answer 10

peripheral neuropathy, angiokeratomas, hypohidrosis

Question 11

what is later symptoms of fabry disease/

Answer 11

progressive renal failure and cardiovascular disease

Question 12

what is inheritance of gaucher disease?

Answer 12

AR

Question 13

what is enzyme issue in gaucher disease?

Answer 13

glucocerebrosidase

Question 14

what builds up in gaucher disease?

Answer 14

glucocerebroside

Question 15

what is histo finding in gaucher disease?

Answer 15

tissue paper laden macros called Gaucher cells

Question 16

what are symptoms of gaucher disease?

Answer 16

hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

Question 17

which of the lysosome storage diseases has bone issues?

Answer 17

gaucher disease

Question 18

what in inheritance of Niemman Pick disease?

Answer 18

AR

Question 19

what is enzyme problem in Niemman Pick?

Answer 19

sphingomyelinase

Question 20

what builds up in niemann pick?

Answer 20

sphingomyelin

Question 21

what is seen in eye with Niemann Pick?

Answer 21

cherry red spot on macula

Question 22

what are main symptoms of Niemann pick?

Answer 22

neurodegeneration, hepatosplenomegaly

Question 23

you see a cherry red spot on macula, how do we differentiate between tay sachs and niemann pick?

Answer 23

tay sachs does not have hepatosplenomegaly and niemann pick does

Question 24

name the two mucopolysaccharidoses

Answer 24

Hurler and Hunter disease

Question 25

what is inheritance of Hurler syndrome?

Answer 25

AR

Question 26

what is enzyme issue in Hurler Syndrome?

Answer 26

a-L-iduronidase

Question 27

what builds up in Hurler syndrome?

Answer 27

heparan sulfate and dermatan sulfate

Question 28

what are symptoms of hurler syndrome/

Answer 28

DD corneal clouding hepatosplenomegaly

Question 29

what are symptoms of Hunter syndrome?

Answer 29

mild form or hurlers...so DD and hepatosplenomegaly but NO CORNEAL CLOUDING

Question 30

what is enzyme issue in Hunters syndrome?

Answer 30

iduronate-2-sulfatase

Question 31

what is buildup in Hunter syndrome?

Answer 31

heparan sulfate and dermatan sulfate

Question 32

what is inheritance of Hunter Syndrome?

Answer 32

XR...hunters aim for the X

Question 33

what are the two sphingolipidoses and mucopolysaccharidoses that are X linked recess?

Answer 33

Hunters and Fabry disease