Glycobiology and Lysosomal Storage Diseases

Question 1

Metachromatic Leukodystrophy mnemonic is

Answer 1

White Metaknight from too much Super Smash CereBros

Question 2

Niemann-Pick is from a deficiency in _____ , causes balance problems, Cherry-red spot on macula, WITH Hepatosplenomegaly

Answer 2

Sphingomyelinase

Question 3

Metachromatic Leukodystrophy is caused by a deficiency in _____, causes a buildup of Cerebroside Sulfate, Ataxia, demetnia, and a buildup of white-matter in the brain.

Answer 3

Arylsulfatase A

Question 4

The mnemonic for Gaucher’s disease is

Answer 4

Gouching your body out with all those bruises

Question 5

Tissue paper Macrophages and Pancytopenia is characteristic for the lysosomal _____ disease

Answer 5

Gaucher

Question 6

Fabry is x-linked recessive lysosomal disorder and caused by a deficiency in _____ causing neuropathy, angiokeratomas, and even renal problems

Answer 6

Alpha-Galacosidase

Question 7

Tay-sachs disease is caused from a deficiency in _____ resulting in the buildup of GM2 Ganglioside, a cherry macula, but NO Hepatosplenomegaly

Answer 7

Hexosaminidase A

Question 8

Krabbe menmonic is

Answer 8

Mr. Krabs Slam Dunking a Globoid cell as part of the Space Jams team “Galacto”

Question 9

Gaucher disease is from lysosomal _____ deficiency and presents with Bone Pain, Hepatosplenomegaly, Pancytopenia, and easy bruising`

Answer 9

Glucocerebrosidase

Question 10

Mnemonic for Niemann-Pick is

Answer 10

Newman is fat and foamy “spleno” and Picks his eye to get a cherry macula

Question 11

The mnemonic for Pompe’s disease is

Answer 11

that it causes trouble “pomping” the heart

Question 12

Mnemonic for Tay-Sachs Disease is

Answer 12

The Terminator, with his Red Eye and trouble walking after fighting, Fit bod means NO hepatosplenomegaly

Question 13

_____ disorder is X-linked recessive lysosomal disorder and presents with a defect in Iduronate Sulfatase and shows aggressive behavior with no clouding in the eyes

Answer 13

Hunter’s

Question 14

In Pompe’s a 1,4 cleavage is deficient due to faulty _____

Answer 14

Alpha Acid-Glucosidase

Question 15

_____ is a lysosomal disorder that presents with Hepatosplenomegaly, Corneal Clouding, and Developmental Delay all caused by a defect in Alpha-L-iduronidase

Answer 15

Hurler disease

Question 16

Krabbe disease is a lysosomal disorder caused by a deficiency in _____ and causes Neuropathy, optic atrophy, and Globoid cells

Answer 16

Galactocerbrosidase

Question 17

Fabry mnemonic is

Answer 17

the A in Fable was out of this Galaxy

Question 18

Onion-skin lysosomes are characteristic of ______ disease

Answer 18

Tay-sachs

Question 19

The mnemonic for Hurler’s is

Answer 19

L in hurLer means look for the missing L in Alpha-L-iduronidase

Question 20

I-cell disease is caused by lack of _____ tagging, and so there’s a buildup of lysosomal enzymes also causing coarse facial features, restrictive joints, and psychomotor impairment

Answer 20

M6P

Question 21

____ and _____ disease are two common Lysosomal storage diseases that are X-linked recessive

Answer 21

Fabry, Hunter

Question 22

The mnemonic for Pompe’s disease is

Answer 22

that it causes trouble “pomping” the heart

Question 23

Foam cells are characteristic for the lysosomal disease ______

Answer 23

Niemann-Pick

Question 24

The Mnemonic for Hunters is

Answer 24

that hunters need clear vision to hunt and they aim for the X