Lysosomal Storage Disease

Front 1

Deficiency in alpha-galactosidase A

Back 1

Fabry Disease

Front 2

Fabry Disease enzyme deficiency

Back 2

alpha-galactosidase A

Front 3

only lysosomal storage disease that is XR

Back 3

Fabry Disease

Front 4

Disease with accumulated substrate ceramide trihexoside

Back 4

Fabry Disease

Front 5

angiokeratomas, peripheral neuropathy with pain in hands and feet, renal disease

Back 5

Fabry disease

Front 6

enzyme deficiency in Gaucher's disease

Back 6

beta-glucocerebrosidase

Front 7

beta-glucocerebrosidase deficiency

Back 7

Gaucher's disease

Front 8

Disease with accumulation of Glucocerebroside

Back 8

Gaucher's disease

Front 9

Lysosomal storage disease that effects mainly just the liver

Back 9

Gaucher's disease

Front 10

Enzyme defiency in Niemann-Pick Disease

Back 10

Sphingomyelinase

Front 11

Disease with sphingomyelinase deficiency

Back 11

Niemann-Pick disease

Front 12

Disease with accumulation of sphingomyelin

Back 12

Niemann-Pick disease

Front 13

Tay Sachs disease
enzyme deficiency

Back 13

Hexosaminidase A

Front 14

Tay Sach's disease
accumulation

Back 14

GM2 ganglioside

Front 15

progressive neurodegeneration, cherry-red spot, lysozymes with onion skin, death in two years

Back 15

Tay Sachs disease

Front 16

Disease with beta-galactosidase deficiency

Back 16

Krabbe disease

Front 17

Krabbe disease
enzyme deficiency

Back 17

beta-galactosidase

Front 18

Krabbe disease
accumulation

Back 18

galactocerebroside

Front 19

Metachromatic Leukodystrophy
enzyme defiency

Back 19

arylsulfatase A

Front 20

Disease with defiency in arylsulfatase A

Back 20

MCL

Front 21

MCL
accumulation

Back 21

cerebroside sulfate

Front 22

ataxia, dementia, siezures, central and peripheral demyelination

Back 22

Metachromatic leukodystrophy

Front 23

Hunter's Syndrome
enzyme deficiency

Back 23

iduronate sulfatase

Front 24

Disease with defiency in iduronate sulfatase

Back 24

Hunter's syndrome

Front 25

Hunter's syndrome
accumulation

Back 25

heparan sulfate, dermatan sulfate

Front 26

Hunters or Hurlers - which one is XR?

Back 26

Hunters

Front 27

Hunters vs. Hurlers
less agressive?

Back 27

Hunters

Front 28

Disease with defiency in alpha-L-iduronidase?

Back 28

Hurlers

Front 29

gargoylism, corneal clouding, developmental delay, upper airway obstruction, hearing loss, MR, death early

Back 29

Hurler Syndrome

Front 30

mild hurler's plus aggressive behavior

Back 30

Hunters