Lysosomal storage disease

Question 1

Fabry’s disease

Answer 1

X-linked, sphingolipidoses
Deficient: alpha galactosidase A
Accumulates: ceramide trihexoside

Finding: peripheral neuropathy of hand/ feets, angiokeratomas, CV/renal (renal most deadly)

Question 2

Gaucher’s disease

Answer 2

AR, sphingolipidoses
Deficient: glucocerebrosidase
Accumulates: glucocerebroside

Finding: most common, hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (MP that look like crumped tissue paper)

Question 3

Niemann-Pick disease

Answer 3

AR, sphingolipidoses
Deficient: sphingomyelinase
Accumulates: sphingomyelin

Finding: progressive neurodegeneration, hepatosplenomegaly (vs. none in Tay Sachs), cherry red spot on macula, foam cells.

Question 4

Tay-Sachs disease

Answer 4

AR, sphingolipidoses
Deficient: hexosaminidase A
Accumulates: GM2 ganglioside

Finding: progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick).

Question 5

Krabbe’s disease

Answer 5

AR, sphingolipidoses
Deficient: Galatocerebrosidase
Accumulates: galactocerebroside

Finding: peripheral neuropathy, developmental delays, optic atrophy, globoid cells

Question 6

Metachromatic leukodystrophy

Answer 6

AR, sphingolipidoses
Deficient: arylsulfatase A
Accumulates: cerebroside sulfate

Finding: central and peripheral demyelination with ataxia, dementia.

Question 7

Hurler’s syndrome

Answer 7

AR, mucopolysaccharidoses
Deficient: alpha-L-iduronidase
Accumulates: Heparan sulfate, dermatan surfate

Finding: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

(Gargoylism: A condition characterized by coarsened facial surface and distorted features and associated with Hurler’s syndrome and Hunter’s syndrome.)

Question 8

Hunter’s syndrome

Answer 8

X linked, mucopolysaccharidoses
Deficient: iduronate sulfatase
Accumulates: Heparan sulfate, dermatan surfate

Finding: milder Hurler’s + aggressive behavior, no corneal clouding (vs. Hurler’s disease).