Brain Lipid Diseases

Question 1

Refsums

Answer 1

Phytanic Acid in peroxisomes

Defective Myelin

Question 2

Hurlers

Answer 2

alpha iduronidase

=GAGs, Heparan + Dermatan Sulfate

Question 3

Hunters

Answer 3

Iduronidate Sulfatase

= GAGs, Heparan + Dermatan Sulfate

Question 4

Oligosaccharides made on…

Answer 4

DOLICHOL PHOSPHATE on membrane

Question 5

Examples of glycoproteins

Answer 5

blood proteins
collagen
mucus secretions
lysosome/ER related proteins

Question 6

Glycolipids =

examples?

Answer 6

Sphingosine + sugars

Cerebrosides, Sulfatides, Globosides, Gangliosides

Question 7

Gangliosides have a ____

Answer 7

NANA (sialic acid at terminus)

Question 8

Gauchers

Answer 8

Glucocerebrosidase

Glucosylceramide
**hepatosplenomegaly

Question 9

Fabry’s

Answer 9

alpha galactosidase A

—-Glycosphingolipids

Question 10

Krabbes

Answer 10

galactocerebrosidase

—Galactocerebroside

Question 11

Tay Sachs

Answer 11

hexosaminidase A

—-GM2 Gangliosides

Question 12

Farbers

Answer 12

Ceramidase

—-sphingosine ceramides

Question 13

Glycolipids have…

Answer 13

Polar head group attached to CERAMIDE by glycosidic bond at the terminal OH group