Biochem

Front 1

Deficiency of hexosaminidase A

Back 1

Tay-Sachs disease

Front 2

Deficiency of glucocerebrosidase

Back 2

Gaucher's disease

Front 3

Deficiency of sphingomyelinase

Back 3

Niemann-Pick disease

Front 4

Deficiency of alpha-L-iduronidase

Back 4

Hurler disease

Front 5

Deficiency of galactocerebrosidase

Back 5

Krabbe disease

Front 6

Deficiency of arylsulfatase A

Back 6

Metachromatic leukodystrophy

Front 7

Deficiency of Iduronate sulfatase

Back 7

Hunter disease

Front 8

Deficiency of alpha-galactosidase A

Back 8

Fabry disease

Front 9

Accumulation of GM2 gangliosides

Back 9

Tay-Sach's disease

Front 10

Accumulation of Glucocerebrosides

Back 10

Gaucher's disease

Front 11

Accumulation of Sphingomyelin

Back 11

Niemann-Pick disease

Front 12

Accumulation of Mucopolysaccharides (Glycosaminoglycans)

Back 12

- Hurler disease (autosomal recessive)
- Hunter disease (X-linked recessive)

Front 13

Accumulation of Sphingomyelin

Back 13

Niemann-Pick disease

Front 14

Accumulation of Galactocerebrosides

Back 14

Krabbe disease

Front 15

Accumulation of Sulfatides (Cerebroside Sulfate)

Back 15

Metachromatic Leukodystrophy

Front 16

Accumulation of Galactocerebrosides

Back 16

Krabbe disease

Front 17

Accumulation of Ceramide Trihexoside

Back 17

Fabry disease

Front 18

Name the disease:
1. Progressive neurodegeneration
2. Developmental delay
3. Cherry-red macular spot

Back 18

Tay-Sach's disease

Front 19

Name the lysosomal storage disease:
1. Hepatosplenomegaly
2. Aseptic necrosis of femur
3. Bone crises

Back 19

Gaucher's disease

Front 20

Name the disease:
1. Progressive neurodegeneration
2. Hepatosplenomegaly
3. Cherry-red macular spot

Back 20

Niemann-Pick disease

Front 21

Name the disease:
1. Developmental delay
2. Gargoylism
3. Airway obstruction
4. Corneal clouding
5. Hepatosplenomegaly

Back 21

HurLer disease

Front 22

Name the lysosomal storage disease:
1. Peripheral neuropathy
2. Developmental delay
3. Optic atrophy

Back 22

Krabbe disease

Front 23

Name the lysosomal storage disease:
- Central & peripheral demyelination with ataxia & dementia

Back 23

Metachromatic leukodystrophy

Front 24

What does Hunter disease lack that you see in Hurler disease? What additional finding do you see in Hunter?

Back 24

LACKS corneal clouding, but you DO see aggressive behavior.

Front 25

Name the disease:
1. Angiokeratomas
2. Peripheral neuropathy of hands & feet
3. Cardiovascular & renal disease

Back 25

Fabry disease

Front 26

Macrophages with "wrinkled tissue paper" cytoplasm

Back 26

Gaucher's disease

Front 27

Macrophages with "foamy" cytoplasm

Back 27

Niemann-Pick disease

Front 28

In which lysosomal storage disease do you see "globoid" cells?

Back 28

Krabbe disease