First Aid- Lysosomal Storage Diseases

Front 1

Fabry Disease

1. Deficient Enzyme
2. Accumulated Sbstrate
3. Inheritance
4. Findings

Back 1

Enzyme: Alpha galactosidase A

Accumulates: Ceramide trihexoside

Inheratance: XLR

Findings: Peripheral neuropathy of hands/feet, angiokeratomas, cardio/renal disease

Front 2

Gaucher's Disease

Back 2

Accumulated substrate: Glucocerbroside

Enzyme: Beta glucocerbrosidase

Inheritence: AR

Findings: Heptaosplenomegally, aspetic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled pieces of paper)

Front 3

Niemann Pick Disease

Back 3

Enxyme Deficient: Sphingomyelinase

Build up of: Sphingomyelin

Inheratince : AR

Findings: Progressive neurodegeneration, heptosplenomegally, cherry red spot on macula, foam cells

Front 4

Tay Sachs Disease

Back 4

Enzyme Deficient: Hexosaminidase A

Build up of : GM2 Ganglioside

Inheratince: AR

Findings: Progressive neurodegeneration, developmental delay, cherry red spot, lysosomes with onion skin

Front 5

Krabbe's Disease

Back 5

Enzyme Deficient: Galactocerbrosidase

Build up of: Galactocerbrosidase

Inheritance: AR

Findings: Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Front 6

Metachromatic Leukodystrophy

Back 6

Enzyme: Arylsufatase A

Build up of : Cerebroside Sulfate

Inheretance AR

Findings: Central and peripheral demyelination with ataxis and dementia

Front 7

Hurler's Syndrome

Back 7

Enzyme: Alpha L iduronidase\

Build up : Heparan sulfate, dermatan sulfate

Inheratence: AR

Findings: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Front 8

Hunters Syndrome

Back 8

Deficient Enzyme: Iduronate Sulfatase

Build up: Heparan sulfate, dermatan Sulfate

Inheratence: XR

Findings: Mild Hurler's and agressive behaviour no corneal clouding