Term
Fabry's Disease
deficient enzyme
substrate
inheritance
findings |
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Definition
alpha galactosidase A
Ceramide trihexoside
X-linked recessive
Peripheral neuropathy, angiokeratomas, cardio/renal disease |
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Term
Fabry's disease
deficient enzyme |
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Definition
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Term
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Definition
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Term
Fabry's disease
inheritance |
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Definition
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Term
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Definition
| Peripheral neuropathy, angiokeratomas, renal/cardio disease |
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Term
Gaucher's Disease
deficient enzyme
substrate
inheritance
findings |
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Definition
Glucocerebrosidase
Glucoserebroside
Autosomal Recessive
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled paper |
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Term
Gaucher's disease
deficient enzyme |
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Definition
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Term
Gaucher's disease
substrate |
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Definition
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Term
Gaucher's disease
inheritance |
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Definition
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Term
Gaucher's disease
findings |
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Definition
| Hepatosplenomegaly, aseptic necrosis of femur and bone crises, macrophages that look like crumpled paper |
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Term
| Most common lysosomal storage disease |
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Definition
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Term
Niemann-Pick Disease
deficient enzyme
substrate
inheritance
findings |
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Definition
Shingomyelinase
Sphingomyelin
Autosomal Recessive
Progressive neurodegeneration, hepatosplenomegaly, cherry red macula, foam cells |
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Term
Niemann-Pick Disease
deficient enzyme |
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Definition
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Term
Niemann-Pick Disease
substrate |
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Definition
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Term
Niemann-Pick disease
inheritance |
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Definition
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Term
Niemann-Pick disease
findings |
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Definition
| Progressive neurodegeneration, hepatosplenomegaly, cherry-red macula, foam cells |
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Term
Tay-Sachs Disease
deficient enzyme
substrate
inheritance
findings |
|
Definition
Hexosaminidase A
GM2 ganglioside
Autosomal Recessive
Progressive neurodegeneration, developmental delay, cherry red macula, lysosomes with onion skin, eye twiches, startle reflex |
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Term
Tay-Sachs disease
deficient enzyme |
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Definition
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Term
Tay-sachs disease
substrate |
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Definition
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Term
Tay-Sachs disease
inheritance |
|
Definition
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Term
Tay-sachs disease
findings |
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Definition
| Progressive neurodegeneration, developmental delay, cherry red macula, lysosomes with onion skin, eye twitches and startle reflex |
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Term
| How do you differentiate Tay-Sachs and Niemann-Pick? |
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Definition
| Niemann-Pick has hepatosplenomegaly, Tay-Sachs doesn't |
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Term
Krabbe's disease
deficient enzyme
substrate
inheritance
findings |
|
Definition
Galactocerebrosidase
Galactocerebroside
Autosomal Recessive
Peripheral neuropathy, developmental delay, optic atrophy, globioid cells |
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Term
Krabbe's disease
deficient enzyme |
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Definition
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Term
Krabbe's disease
substrate |
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Definition
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Term
Krabbe's disease
inheritance |
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Definition
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Term
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Definition
| Peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
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Term
Metachromatic Leukodystrophy
deficient enzyme
substrate
inheritance
findings |
|
Definition
Arylsulfatase A
Cerebroside Sulfate
Autosomal Recessive
Central and peripheral demyelination with ataxia, dementia, incontinence and spared subcortical U fibers |
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Term
Metachromatic leukodystrophy
deficient enzyme |
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Definition
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Term
Metahcromatic Leukodystrophy
substrate |
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Definition
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Term
Metachromatic leukodystrophy
inheritance |
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Definition
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Term
Metachromatic leukodystrophy
findings |
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Definition
| Central and peripheral demyelination with ataxia, dementia, incontinence and sparing of subcortical U fibers |
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Term
Hurler's Syndrome
deficient enzyme
substrate
inheritance
findings |
|
Definition
alpha-L-iduronidase
Heparan sulfate and dermatan sulfate
Autosomal recessive
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
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Term
Hurler's syndrome
deficient enzyme |
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Definition
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Term
Hurler's syndrome
substrate |
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Definition
| Heparan sulfate and dermatan sulfate |
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Term
Hurler's Syndrome
inheritance |
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Definition
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Term
Hurler's syndrome
findings |
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Definition
| Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
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Term
Hunter's syndrome
deficient enzyme
substrate
inheritance
findings |
|
Definition
Iduronate Sulfatase
Heparan sulfate and dermatan sulfate
X-linked Recessive
Mild hurler's without corneal clouding and with aggression
Developmental delays, airway obstruction, gargoylism, hepatosplenomegaly and aggression |
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Term
Hunter's syndrome
deficient enzyme |
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Definition
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Term
Hunter's syndrome
substrate |
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Definition
| Heparan sulfate and demartan sulfate |
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Term
Hunter's syndrome
inheritance |
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Definition
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Term
Hunter's syndrome
findings |
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Definition
| Developmental delay, gargoylsm, airway obstruction, hepatosplenomegaly, aggression |
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Term
I Cell disease
deficient enzyme
substrate
inheritance
findings |
|
Definition
Phosphotransferase (golgi complex)
Lyosomal enzymes and contents
Autosomal recessive
coarse face, hip dislocation, inguinal hernia, inclusion bodies in cells due to stuff building up in the lysosomes, lysosomal enzymes in serum |
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Term
I cell disease
deficient enzyme |
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Definition
| Phosphotransferase (golgi complex) |
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Term
|
Definition
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Term
| I cell disease inheritance |
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Definition
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Term
|
Definition
| coarse face, hip dislocation, inguinal hernia, inclusion bodies in cells and lysosomal enzymes in blood |
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