Lysosomal Storage Disease

Question 1

Fabry’s disease

Answer 1

1) Peripheral neuropathy, angiokeratomas, CV/renal disease
2) Alpha-galactosidase A
3) Ceramide trihexoside accumulates
4) X-linked recessive

Question 2

Tay-Sachs disease

Answer 2

1) Progressive neurodegeneration, cherry red spot on macula, lysosomes with onion skin
2) NO hepatosplenomegaly -> vs Neimann-Pick
3) Startle response
4) Hexosaminidase A deficient
5) GM2 ganglioside accumulates

Question 3

Metachromatic leukodystrophy

Answer 3

1) Central and peripheral demyelination with ataxia and dementia
2) Arylsulfatase A is deficient
3) Cerebroside sulfate accumulates

Question 4

Hurler’s syndrome

Answer 4

1) Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
2) Alpha-L-iduronidase
3) Heparan sulfate, dermatan sulfate accumulates

Question 5

Hunter’s syndrome

Answer 5

1) Mild Hurler’s and aggressive behavior, no corneal clouding
2) Iduronate sulfatase deficient
3) Heparan sulfate, dermatan sulfate builds up
4) X-linked recessive