Term
|
Definition
Enzyme- alpha-galactosidase,
ceramide trihexoside accumulates in heart brain and kidney
renal failure and increase risk of stroke and MI
XR |
|
|
Term
|
Definition
galactosylceramidase deficiency,
galactocerebrosides accumulate in brain
optic atrophy, spasticity, early death
AR |
|
|
Term
|
Definition
glucocerebrosidase deficiency,
glucocerebrosides accululate in brain, liver, spleen, bone marrow
cells look like crinkled paper
hepatosplenomegaly, anemia, trhombocytopenia
AR |
|
|
Term
|
Definition
sphingomyelinase deficiency,
sphingomyelin builds up
AR |
|
|
Term
|
Definition
abesnet hexosaminidase, GM2 gangliosides builds up,
weakness and development begins to regress at 6months, Cherry red spot |
|
|
Term
| Metachromatic leukodystrophy |
|
Definition
| arylsulfatase absent, sulfatide builds up in brain, lidney, liver and peripheral nerves |
|
|
Term
|
Definition
absent alpha-L-iduronidase,
corneal clouding and MR
AR |
|
|
Term
|
Definition
iduronate sulfatase absent,
mild Hurler's no corneal clouding and mild MR
XR |
|
|
