Term
|
Definition
| Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease (XR) |
|
|
Term
| Fabry's disease Deficient enzyme |
|
Definition
|
|
Term
Fabry's disease Accumulated
substrate |
|
Definition
|
|
Term
| Gaucher's disease findings |
|
Definition
Hepatosplenomegaly, aseptic
necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
Most common lysosomal storage disorder. |
|
|
Term
| Gaucher's disease Deficient enzyme |
|
Definition
|
|
Term
Gaucher's disease Accumulated
substrate |
|
Definition
|
|
Term
| Niemann-Pick disease findings |
|
Definition
| Progressive neurodegenera tion, hepatosplenomegaly, cherry-red spot on macula, foam cells |
|
|
Term
| Niemann-Pick disease Deficient enzyme |
|
Definition
|
|
Term
Niemann-Pick disease Accumulated
substrate |
|
Definition
|
|
Term
| Tay-Sachs disease findings |
|
Definition
Progressive
neuroclegeneration,
developmental delay,
cherry-red spot on macula,
lysosomes with onion skin,
no hepatosplenomegaly (vs.
Niemann-Pick) |
|
|
Term
| Tay-Sachs disease Deficient enzyme |
|
Definition
|
|
Term
Tay-Sachs disease Accumulated
substrate |
|
Definition
|
|
Term
| Krabbe's disease findings |
|
Definition
Peripheral neuropathy,
developmental delay, optic
atrophy, globoid cells |
|
|
Term
| Krabbe's disease Deficient enzyme |
|
Definition
| Beta-galactocerebrosidase |
|
|
Term
Krabbe's disease Accumulated
substrate |
|
Definition
|
|
Term
Metachromatic
leukodystrophy findings |
|
Definition
| Central and peripheral demyelination with ataxia, dementia |
|
|
Term
Metachromatic
leukodystrophy Deficient enzyme |
|
Definition
|
|
Term
Metachromatic
leukodystrophy Accumulated
substrate |
|
Definition
|
|
Term
| Hurler's syndrome findings |
|
Definition
Developmental
delay, gargoylism,
airway obstruction,
corneal clouding,
hepatosplenomegaly |
|
|
Term
| Hurler's syndrome Deficient enzyme |
|
Definition
|
|
Term
Hurler's syndrome Accumulated
substrate |
|
Definition
| Heparan sulfate,dermatan sulfate |
|
|
Term
| Hunter's syndrome findings |
|
Definition
| Mild Hurler's + aggressive behavior, no corneal clouding |
|
|
Term
| Hunter's syndrome Deficient enzyme |
|
Definition
|
|
Term
Hunter's syndrome Accumulated
substrate |
|
Definition
| Heparan sulfate,dermatan sulfate |
|
|
