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Step 1 - Lysosomal Storage Diseases
Pages 116-117 of First Aid 2012
47
Biochemistry
Graduate
05/20/2012

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Cards

Term
Fabry's Disease
deficient enzyme
substrate
inheritance
findings
Definition
alpha galactosidase A
Ceramide trihexoside
X-linked recessive
Peripheral neuropathy, angiokeratomas, cardio/renal disease
Term
Fabry's disease
deficient enzyme
Definition
alpha galactosidase A
Term
Fabry's disease
substrate
Definition
ceramide trihexoside
Term
Fabry's disease
inheritance
Definition
X-linked recessive
Term
Fabry's disease
findings
Definition
Peripheral neuropathy, angiokeratomas, renal/cardio disease
Term
Gaucher's Disease
deficient enzyme
substrate
inheritance
findings
Definition
Glucocerebrosidase
Glucoserebroside
Autosomal Recessive
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled paper
Term
Gaucher's disease
deficient enzyme
Definition
Glucocerebrosidase
Term
Gaucher's disease
substrate
Definition
glucocerebroside
Term
Gaucher's disease
inheritance
Definition
Autosomal recessive
Term
Gaucher's disease
findings
Definition
Hepatosplenomegaly, aseptic necrosis of femur and bone crises, macrophages that look like crumpled paper
Term
Most common lysosomal storage disease
Definition
Gaucher's
Term
Niemann-Pick Disease
deficient enzyme
substrate
inheritance
findings
Definition
Shingomyelinase
Sphingomyelin
Autosomal Recessive
Progressive neurodegeneration, hepatosplenomegaly, cherry red macula, foam cells
Term
Niemann-Pick Disease
deficient enzyme
Definition
Sphingomyelinase
Term
Niemann-Pick Disease
substrate
Definition
Sphingomyelin
Term
Niemann-Pick disease
inheritance
Definition
Autosomal recessive
Term
Niemann-Pick disease
findings
Definition
Progressive neurodegeneration, hepatosplenomegaly, cherry-red macula, foam cells
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
Term
Tay-Sachs disease
deficient enzyme
Definition
hexosaminidase A
Term
Tay-sachs disease
substrate
Definition
GM2 ganglioside
Term
Tay-Sachs disease
inheritance
Definition
autosomal recessive
Term
Tay-sachs disease
findings
Definition
Progressive neurodegeneration, developmental delay, cherry red macula, lysosomes with onion skin, eye twitches and startle reflex
Term
How do you differentiate Tay-Sachs and Niemann-Pick?
Definition
Niemann-Pick has hepatosplenomegaly, Tay-Sachs doesn't
Term
Krabbe's disease
deficient enzyme
substrate
inheritance
findings
Definition
Galactocerebrosidase
Galactocerebroside
Autosomal Recessive
Peripheral neuropathy, developmental delay, optic atrophy, globioid cells
Term
Krabbe's disease
deficient enzyme
Definition
Galactocerebrosidase
Term
Krabbe's disease
substrate
Definition
galactocerebroside
Term
Krabbe's disease
inheritance
Definition
autosomal recessive
Term
Krabbe's disease
findings
Definition
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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
Term
Metachromatic leukodystrophy
deficient enzyme
Definition
Arylsulfatase A
Term
Metahcromatic Leukodystrophy
substrate
Definition
Cerebroside Sulfate
Term
Metachromatic leukodystrophy
inheritance
Definition
autosomal recessive
Term
Metachromatic leukodystrophy
findings
Definition
Central and peripheral demyelination with ataxia, dementia, incontinence and sparing of subcortical U fibers
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
Term
Hurler's syndrome
deficient enzyme
Definition
alpha-L-iduronidase
Term
Hurler's syndrome
substrate
Definition
Heparan sulfate and dermatan sulfate
Term
Hurler's Syndrome
inheritance
Definition
autosomal recessive
Term
Hurler's syndrome
findings
Definition
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
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
Term
Hunter's syndrome
deficient enzyme
Definition
Iduronate sulfatase
Term
Hunter's syndrome
substrate
Definition
Heparan sulfate and demartan sulfate
Term
Hunter's syndrome
inheritance
Definition
X-linked recessive
Term
Hunter's syndrome
findings
Definition
Developmental delay, gargoylsm, airway obstruction, hepatosplenomegaly, aggression
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
Term
I cell disease
deficient enzyme
Definition
Phosphotransferase (golgi complex)
Term
I cell disease
substrate
Definition
lysosomal contents
Term
I cell disease inheritance
Definition
autosomal recessive
Term
I cell disease
findings
Definition
coarse face, hip dislocation, inguinal hernia, inclusion bodies in cells and lysosomal enzymes in blood
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