Lysosomal Storage Disease

Question 1

Deficiency of alpha galactosidase A

Build up of ceramide trihexoside

Answer 1

Fabry disease

my Fabrite activity is Ceramix. We made a galaXy.

I FABRIcated a CERAmic GALAxy
it burned my hands and i got ANGIOKERATOMAS and RENAL FAILURE

X linked

Question 2

Deficiency in glucocerebrosidase

Build up glucocerebroside

Tissue paper cytoplasm

Answer 2

Gaucher’s disease

oh my Gauch he’s such a Bro-ken bone

Osteonecrosis of femoral head

Question 3

Deficiency of Hexosaminidase A

Build up of GM2 gangliosides

Cherry red spot on macula

No hepatosplenomegaly

Answer 3

Tay-Sachs

A gang of 6 small Jews

Cherry red spot

hyphenated

Question 4

Deficiency in sphingomyelinase

Build up Sphingomyelin

Cherry red spots in macula

Hepatosplenomegaly

Answer 4

Niemann-Pick

pick your big nose with your sphinger

hyphenated

Question 5

Deficiency of beta galactocerebrosidase

Build up galactocerebroside

Globoid cells

Answer 5

Krabbe

the krabbe is out of this world GALS and BRO

Question 6

Deficiency of iduronate sulfatase

Build up dermatan sulfate, heparan sulfate

No corneal clouding

Answer 6

Hunter’s disease

X marks the spot id run

Question 7

Deficiency of L iduronate

Build up Dermatan sulfate, heparan sulfate

Corneal clouding

Answer 7

Hurler

Question 8

Deficiency of arylsulfatase

Build up sulfatide

Drunk, weak, clumsy
Toe walking, slurred speech, blurred vision

Answer 8

Metachromatic leukodystrophy

You can stand under my umbraryl aryl aryl sulfatase A A A deficiency