Lysosomal Storage Diseases

Question 1

Alpha-galactosidase A Deficiency

Answer 1

Fabry Disease (Accumulated Ceramide Trihexoside)

Question 2

Sxn: Peripheral neuropathy of hands/feet (acroparesthesias), Angiokeratomas (dark red, non-blanching macules on abdomen to knee), cardiovascular/renal disease

Answer 2

Fabry Disease

Question 3

Accumulated Ceramide Trihexoside

Answer 3

Fabry Disease (Alpha -galactosidase A def), X-linked receesive

Question 4

Glucocerebrosidase (Beta-glucosidase) Deficiency

Answer 4

Gaucher Disease (Accumulated Glucocerebroside)

Question 5

Sxn: Hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, lipid-laden macrophages resembling crumpled tissue paper

Answer 5

Gaucher Disease (Accumulated Glucocerebroside)

Question 6

Accumulated Glucocerebroside

Answer 6

Gaucher Disease

Question 7

Sphingomyelinase Deficiency

Answer 7

Niemann-Pick Disease (Accumulated Sphingomyelin)

Question 8

Accumulated Sphingomyelin

Answer 8

Niemann-Pick Disease

Question 9

Sxn: progressive neurodegeneration (spasticity), hepatosplenomegaly, cherry red spot on macula, foam cells (lipid-laden macrophages)

Answer 9

Niemann-Pick Disease

Question 10

Hexosaminidase A Deficiency

Answer 10

Tay-Sachs Disease (Accumulated GM2 Ganglioside)

Question 11

Accumulated GM2 Ganglioside

Answer 11

Tay-Sachs Disease

Question 12

Sxn: Progressive neurodegeneration (spasticity), NO HEPATOSPLENOMEGALY, cherry-red spot on macula, lysosomes with onion skin, developmental delay

Answer 12

Tay-Sachs Disease

Question 13

Galactocerebrosidase Deficiency

Answer 13

Krabbe Disease (Accumulated Galactocerebroside, psychosine)

Question 14

Accumulated Galactocerebroside, psychosine

Answer 14

Krabbe Disease (Galactocerebrosidase Deficiency)

Question 15

Sxn: Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Answer 15

Krabbe Disease

Question 16

Arylsulfatase A Deficiency

Answer 16

Metachromatic Leukodystrophy (Cerebroside Sulfate accumulation)

Question 17

Cerebroside Sulfate accumulation

Answer 17

Metachromatic Leukodystrophy (Arylsulfatase A Deficiency)

Question 18

Sxn: Central and peripheral demyelination with ataxia, dementia

Answer 18

Metachromatic Leukodystrophy

Question 19

Alpha-L-Iduronidase Deficiency

Answer 19

Hurler Syndrome (Accumulated Heparan Sulfate, Dermatan Sulfate), Autosomal recessive

Question 20

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

Answer 20

Hurler Syndrome (Accumulated Heparan Sulfate, Dermatan Sulfate)

Question 21

Iduronate Sulfatase Deficiency

Answer 21

Hunter Syndrome (Accumulated Heparan Sulfate, Dermatan Sulfate), X-linked recessive

Question 22

Sxn: Aggressive behavior, developmental delay, gargoylism, airway obstruction, hepatosplenomegaly, NO corneal clouding

Answer 22

Hunter Syndrome (Accumulated Heparan Sulfate, Dermatan Sulfate), X-linked recessive

Question 23

GM2 –> GM3

Answer 23

Hexosaminidase A (Def = Tay-Sachs)

Question 24

Glucocerebroside –> Ceramide

Answer 24

Glucocerebrosidase (Def = Gaucher)

Question 25

Ceramide Trihexoside –> Glucocerebroside

Answer 25

Alpha-galactosidase A (Def = Fabry)

Question 26

Sphingomyelin –> Ceramide

Answer 26

Sphingomyelinase (Def = Niemann-Pick)

Question 27

Sulfatides –> Galactocerebroside

Answer 27

Arylsulfatase A (Def = Metachromatic Leukodystrophy)

Question 28

Galactocerebroside –> Ceramide

Answer 28

Galactocerebrosidase (Def = Krabbe)