Lysosomal Storage Diseases

Question 1

Progressive neurodegeneration
Cherry red macula
Lysosomes with onion skin

(Dx, deficient enzyme, and accumulated substrate)

Answer 1

Tay Sachs

Deficient Hexosaminidase A

Excess GM2 Ganglioside

Question 2

Peripheral neuropathy
Angiokeratomas
Hypohidrosis
Renal failure

(Dx, deficient enzyme, and accumulated substrate)

Answer 2

Fabry (x-linked rec)

Deficient a-galactosidase A

Excess Ceramide trihexose

Question 3

Demyelination with ataxia
Dementia

(Dx, deficient enzyme, and accumulated substrate)

Answer 3

Metachromatic leukodystrophy

Deficient Arylsulfatase A

Excess Cerebroside sulfate

Question 4

Peripheral neuropathy
Optic atrophy
Globoid cells (?)

(Dx, deficient enzyme, and accumulated substrate)

Answer 4

Krabbe

Deficient Galactocerebrosidase

Excess Galactocerebroside

Question 5

Hepatosplenomegaly
Pancytopenia
Osteoporosis
Necrosis of femur
"Crumpled paper" macrophages

(Dx, deficient enzyme, and accumulated substrate)

Answer 5

Gaucher

Deficient Glucocerebrosidase

Excess Glucocerebroside

Question 6

Hepatosplenomegaly
Foam cells
Cherry red macula

(Dx, deficient enzyme, and accumulated substrate)

Answer 6

Niemann-Pick

Deficient Sphingomyelinase

Excess Sphingomyelin

Question 7

Gargoylism
Airway obstruction
Corneal clouding
Hepatosplenomegaly

(Dx, deficient enzyme, and accumulated substrate)

Answer 7

Hurler

Deficient a-L-iduronidase

Excess Heparan/dermatan sulfate

Question 8

Gargoylism
Airway obstruction
Hepatosplenomegaly
Aggressive behavior

(Dx, deficient enzyme, and accumulated substrate)

Answer 8

Hunter (x-linked rec)

Deficient Iduronate-2-sulfatase

Excess Heparan/dermatan sulfate