Lysosomal storage diseases Deficient Enzyme and Accumulated Substrate

Question 1

Fabry disease

Answer 1

alpha-galactosidase A and Ceramide trihexoside [FabrAy dz is alpha-galactosidase A] [ceramide sounds like ceramic, like hard Faberge eggs]

Question 2

Gaucher disease

Answer 2

Glucocerebrosidase (Beta-glucosidase) and Glucocerebroside [My one patient was chubby, she liked glucose]

Question 3

Niemann-Pick disease

Answer 3

Sphinomyelinase and Sphingomyelin [No man picks his nose with his sphinger]

Question 4

Tay-Sachs disease

Answer 4

Hexosaminidase A and GM2 ganglioside [Tay-SaX lacks heXosaminidase] [Tay-Sachs is two names, produces GM2 ganglioside]

Question 5

Krabbe disease

Answer 5

Galactocerebrosidase and Galactocerebroside, psychosine [Ever had Krab Milk (galactose) with Khlav Kalash? You must be crazy (psychosine)]

Question 6

Metachromatic leukodystrophy

Answer 6

Arylsulfatase A and Cerebroside sulfate [Chrom is color, like sulfur, so arylsulfatase A and cerebroside sulfate]

Question 7

Hurler syndrome

Answer 7

alpha-L-iduronidase and Heparan sulfate, dermatan sulfate [Both mucopolysaccharidoses produce HS and DS and the enzymes have iduron in them] [HurLer alpha-L-iduronidase]

Question 8

Hunter syndrome

Answer 8

Iduronate sulfatase and heparan sulfate, dermatan sulfate

Question 9

What are the Sphingolipidoses

Answer 9

Everything except Hurler and Hunter syndrome. (Fabry, Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, metachromatic leukodistrophy]

Question 10

Be able to draw out the pathways for them.

Answer 10

…

Question 11

Which ones have increased incidence in Ashkenazi Jews

Answer 11

Tay-Sachs, Niemann-Pick, and some forms of Gaucher disease.