Lysosomal storage disease

Question 1

Fabry disease findings

Answer 1

Peripheral neuropathy of hands and feet
Angiokeratomas
Cardiovascular and renal disease

Question 2

Fabry disease deficient enzyme and accumulated substrate

Answer 2

Enzyme: Alpha galactosidase A
Substrate: Ceramide trihexoside

Question 3

Gaucher disease findings

Answer 3

Most common
Hepatosplenomegaly, pancytopenia
Osteoporosis
Aseptic necrosis of the femur
Bone crises

Question 4

Gaucher disease deficient enzyme and accumulated substrate

Answer 4

Glucocerebrosidase

Glucocerebroside

Question 5

Niemann Pick disease findings

Answer 5

Progressive neurodegeneration
Hepatosplenomegaly
Foam cells
Cherry red spot on macula

Question 6

Niemann Pick disease deficient enzyme and accumulated substrate

Answer 6

Sphingomyelinase

Sphingomyelin

Question 7

Tay Sachs disease findings

Answer 7

Progressive neurodegeneration
Developmental delay
Cherry red spot on macula
Lysosomes with onion skin
NO hepatomegaly

Question 8

Tay-Sachs disease deficient enzyme and accumulated substrate

Answer 8

Hexosaminidase A

GM2 ganglioside

Question 9

Krabbe disease findings

Answer 9

Peripheral neuropathy
developmental delay
Optic atrophy
Globoid cells

Question 10

Krabbe disease deficient enzyme and accumulated substrate

Answer 10

Galactocerebrosidase
Galactocerebroside
Pschosine

Question 11

Metachromatic leukodystrophy findings

Answer 11

Central and peripheral demyelination with ataxia

Dementia

Question 12

Hurler syndrome findings

Answer 12

Developmental delay
Gargoylism
Airway obstruction
Corneal clouding
Hepatosplenomegaly

Question 13

Hunter syndrome findings

Answer 13

Mild Hurler’s with aggressive behavior

No corneal clouding