Fa: Biochem

Front 1

peripheral neuropathy of hands/feet, angiokeratoma, cardiovascular/renal disease
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 1

1. fabry's
2. alpha galactosidase A
3. ceramide trihexoside
4. XR

Front 2

hepatosplenomegaly, aseptic necrosis of femur, bone crises, crumpled tissue paper macrophage)
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 2

1. gaucher's disease
2. beta glucocerebrosidase
3. glucocerebroside
4. AR

Front 3

progressive neurodegeneration, hepatosplenomegaly, cherry red spot, foam cells
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 3

1. niemann pick
2. sphingomyelinase
3. sphingomyelin

Front 4

progressive neurodegeneration, developmental delay, cherry red spot, lysosomes w/ onion skin
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 4

1. tay sachs
2. hexosaminidase A
3. GM2 ganglioside
4. AR

Front 5

peripheral neuropathy, developmental delay, optic atrophy, globoid cells
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 5

1. krabbe's
2. galactocerebrosidase
2. falactocerebroside
4. AR

Front 6

central and peripheral demyelination w/ ataxia, dementia
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 6

1. metachromatic leukodystrophy
2. arylsulfatase A
3. cerebroside sulfate
4. AR

Front 7

developmental delay, fargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 7

1. hurler's syndrome
2. alpha iduronidase
3. heparan sulfate,, dermatan sulfate
4. AR

Front 8

mild hurler's + aggressive behaviour, no corneal clouding
1. disease?
2. deficient enzyme?
3. accumulated substance?
4. inheritance?

Back 8

1. hunter's syndrome
2. iduronate sulfatase
3. heparan sulfate, dermatan sulfate
4. XR