Lysosomal Storage Disease

Front 1

Fabry's disease

Back 1

peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease<br /><br />alpha-galactosidase A deficiency. Ceramide trihexodie accumulates<br /><br />XR inheritence

Front 2

Gaucher's disease

Back 2

most common.
hepatoslenomegaly, aseptic necrosis of femur, bone crises, crumpled tissue paper machrophages.

beta-glucocerebrosidase. glucocerebroside accumulate

AR

Front 3

Tay-Sachs

Back 3

Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes w/ onion skin. NO hepatosplenomegaly

Hexoaminidase A def. GM2 ganglioside accumulate

AR. ashkenazyi jews

Front 4

Niemann-Pick

Back 4

progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells.

sphingomyelinase, sphingomyelin accumulation.

AR

Front 5

Krabbe's

Back 5

peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

galactocerebrosidase def. Galactocerebroside accumulation.

AR

Front 6

Metachromatic leukodystrophy

Back 6

central and peripheral demyelination w/ ataxia, dementia

Arylsulfatase def, cerebroside sulfate accumulate

AR

Front 7

Hurler's syndrome

Back 7

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

alpha-L-iduronidase, heparan sulfate and dermatan sulfate accumulate.

AR

Front 8

Hunter's syndrome

Back 8

Mild hurler's + aggressive behavior, no corneal clouding.

Iduronate sulfatase def, heparan sulfate and dermatan sulfate accum.

XR