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12 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Gaucher's disease
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Deficient enzyme - glucocerbrosidase
Accumulated substance - glucocerebroside |
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled paper
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Niemann-Pick disease
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Deficient enzyme - sphingomyelinase
Accumulated substance - sphingomyelin |
Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
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Tay-Sachs disease
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Deficient enzyme - hexosaminidase A
Accumulated substance - GM2 ganglioside |
Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly
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Hurler's syndrome
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Deficient enzyme - a-L-iduronidase
Accumulated substance - heparan sulfate, dermatan sulfate |
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
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Hunter's syndrome
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Deficient enzyme - iduronate sulfatase
Accumulated substance - heperan sulfate, dermatan sulfate |
Mild Hurler's + aggresive behavior, no corneal clouding, X-linked recessive
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Essential fructosuria
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fructokinase
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benign fructose in blood and urine
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Fructose intolerance
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aldolase B
fuctose-1-phosphate accumulates leads to inhibition of glycogenolysis and gluconeogenesis |
Hypoglycemia, jaundice, cirrhosis, vomitting, no fructose/sucrose
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Galactokinase defiency
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galactokinase
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infantile cataracts, failure to tract objects or to develop a social smile
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Classic galactosemia
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galactose-1-phosphate uridyltranferase
accumulation galacitol in eyes |
failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation
No galactose an lactose |
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Fabry's disease
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Deficient enzyme - a-galactosidase A
Accumulated substrate - ceramide trihexoside |
Peripheral neuropathy of hand/s feet, angiokeratomas, cardiovascular/renal disease, X-linked recessive
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Krabbe's disease
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Deficient enzyme - B-galactocerebrosidase
Accumulated substance - galactocerebroside |
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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Metachromatic leukodystrophy
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Deficient enzyme - arylsulfatase A
Accumulated substrate - cerebroside sulfate |
Central and peripheral demyelination with ataxia, dementia
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