Lysosomal storage diseases

Question 1

Peripheral neuropathy and angiokeratomas

Answer 1

Fabry’s disease: Alpha galactosidase deficiency that causes build-up of ceramide trihexoside. XR.

Question 2

HSM, femur necrosis, bone crises, tissue paper macrophages

Answer 2

Gaucher’s disease: low glucocerebrosidase leads to build-up of glucocerebroside. AR.

Question 3

HSM, neurodegeneration, cherry red macula spot.

Answer 3

Niemann-Pick: low sphingomyelinase leads to high sphingomyelin. AR.

Question 4

Cherry-re macula spot without HSM; neurodegeneration.

Answer 4

Tay-Sach’s: low hexosaminidase A causes GM2 ganglioside build-up. AR.

Question 5

Globoid cells with neuropathy and developmental delay

Answer 5

Krabbe’s: low galactocerebrosidase causes high galactocerebroside. AR.

Question 6

Demylination, ataxia, and dementia.

Answer 6

Metachromatic leukodystrophy: low arylsulfatase A causes cerebroside sulfate buildup. AR.

Question 7

Gargoylism, corneal clouding, HSM

Answer 7

Low alpha L-iduronidase causes high heparan sulfate and dermatan sulfate. AR.

Question 8

Aggressiveness, mild HSM, and mild gargoylism

Answer 8

Low iduraonate sulfatase leads to increased heparan and dermatan sulfate. XR.

Question 9

Diseases with increased incidence in Ashkenazi Jews

Answer 9

Tay-Sach’s, Niemann-Pick, Gaucher’s.